Medical Hero Spotlight: Noa Greenwood, Canavan Disease Clinical Trial Participant

Canavan Disease Diagnosis

Lee and Lori Greenwood welcomed their daughter Noa in August 2020. Born full-term and seemingly healthy, Noa’s first weeks of life passed without issue. However, at around 8 weeks old, Noa began crying much more than the average baby. Concerned she might have colic or a reflux problem, the Greenwoods took her to the pediatrician. Noa’s doctor determined she did not have colic but couldn’t identify the underlying issue.

Soon after, Lee and Lori noticed that Noa wasn’t responding to lights or movements and worried she had vision loss. “She wasn’t looking at us — she was almost looking through us,” Lee recalls. Around the same time, Noa stopped gaining weight and dropped from the 89th percentile to the 26th percentile in her age group.

Referred to an ophthalmologist, they again found no clear answer to Noa’s symptoms, and she continued to miss developmental milestones.

When she began struggling to swallow, the Greenwoods pushed for a consultation with a neurologist, initially meeting via Zoom. “Noa’s neurologist was wonderful,” Lori says. “She originally suspected hydrocephalus and recommended we bring her into the office. However, I could tell from her reaction to Noa that something else was going on.”

Noa was then scheduled for an MRI, which unfortunately took several months of waiting due to the pandemic. In the meantime, she received early intervention care via Zoom calls with different specialists.

In August 2021, a few weeks before her first birthday, Noa’s MRI appointment revealed that she had Canavan disease, a progressive, fatal, genetic disorder affecting the central nervous system.

“We received the news on Zoom,” Lee recalls. “Lori and I joined a video call having no idea that doctors were about to tell us our beautiful little daughter had a fatal disease with a life expectancy of around 10 years.”
Finding Community Support

After Noa was diagnosed, Lee and Lori began researching the disease, seeking information and support online. They found a patient advocacy organization based in Boston that supports children with Canavan and related diseases. This organization helped connect them to relevant Facebook groups and the Canavan community.

“Everyone has been incredibly supportive. They have all experienced the same diagnosis and understand what it’s like. Being involved in this community and patient advocacy has been immensely helpful for us,” Lori says.
Clinical Trial Referral

For most patients, clinical trial participation is only mentioned by doctors after standard treatment options are exhausted. However, there is currently no cure for Canavan disease and the only treatment is palliative care. For such an ultra-rare disease affecting only 1,000 children across the U.S. and the EU, research studies are hard to come by.

The day Noa was diagnosed with Canavan, a new clinical trial became available at Massachusetts General Hospital in Boston, only 30 minutes from the Greenwood’s home. Noa was immediately referred by her neurologist, and within weeks the family was in contact with the trial coordinator.

“Everything came together in a serendipitous way. The timing was right, the location was so close to us, and Noa met all the eligibility criteria to qualify for the trial, which many kids don’t,” Lee says. “It’s funny to think of yourself as fortunate when facing a disease like Canavan, but we really are.”

Since clinical research was one of the only ways Noa might be successfully treated for Canavan disease, Lee and Lori decided that joining a trial for gene therapy was the best choice for their family.

Starting Gene Therapy

Gene therapy corrects genetic information that causes illness by replacing a faulty or missing gene with a genetically engineered ‘vector’. In recent years, gene therapy has been transformative across many diseases.

Before starting treatment, Noa and her family spent a lot of time at doctors’ appointments and in the hospital for the screening process. Noa had multiple MRIs under anesthesia to ensure she would be suitable to receive this type of treatment.

In June of 2022, when Noa was almost 2 years old, she received treatment in the Canavan trial using gene therapy. Noa spent about a week in the hospital afterward and then took steroids for about six months. She continues to be monitored and has regular check-ins with her care team.

Patient Advocacy Work

Before Noa began the trial treatment for Canavan disease, Lee and Lori already understood the complexities of navigating clinical trials and the healthcare system through research and their backgrounds.

“Clinical trials can be complicated and intimidating for patients and their families, especially when there’s a power dynamic between patients and doctors that can make asking questions difficult. Many people, particularly in underserved communities, face additional barriers like language and cultural differences that we don’t,” Lori explains.

Since Noa’s participation in clinical research began, the Greenwoods have made it their mission to raise awareness for Canavan disease and empower other patients to ask questions and advocate for themselves.

“By sharing our experiences, we hope to help others feel more confident in navigating the medical system. We’re fortunate to have a supportive care team and feel a responsibility to share our journey to benefit others, not just Canavan families but anyone involved in the medical field. By sharing our story, we aim to remind those working in research of the real people they are helping,” Lee says.

“It’s important to remind researchers that when they are conducting trials, they are changing the lives of real patients. You’re not just working to treat Canavan disease; you’re working to help kids like Noa.”
Life Today for Noa & Her Family

Today, Noa is currently in the second year of the five-year clinical trial, and for the Greenwood family, the results have been incredible.

“When we found out Noa had Canavan, we never imagined that her life could be the way it is now,” Lori says. “We are so proud of her!”

Today, Noa’s parents describe her as a sweet and affectionate toddler who can walk independently, is learning her ABCs and how to count, and goes to public school every day with other children her age. Just two years ago, Canavan disease would have made these milestones unreachable for Noa.

The Greenwoods share that they are proud of Noa’s participation in the research that may one day cure Canavan’s disease, even if her treatment today is only the first step.

“We have had an amazing experience in the clinical trial with Noa so far, but we understand the nature of this disease. There is so much uncertainty   her progress could reverse unexpectedly at any time,” Lee notes.
“But through this experience, we have gotten so much better at learning to embrace the current moment as parents. Regardless of what happens in the future, no one can take away the joy I’ve had seeing Noa grow and thrive the last  two years, which wouldn’t have been possible without the trial.”

Additional Resources:

https://www.umassmed.edu/news/news-archives/2023/07/family-connects-with-researchers-behind-canavan-gene-therapy/

https://www.canavan.org/

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Michael Herman, Multiple Myeloma Clinical Trial Participant & Patient Advocate

Abruptly Diagnosed: Facing Multiple Myeloma

In the Fall of 2012, Mike Herman and his wife Angela were taking their daily walk with their dogs through the neighborhood. When Mike dropped his glasses and bent down to pick them up, he felt a sharp pain, much like walking into the corner of a counter. He assumed it may have been a pulled muscle, and tentatively moved on until it happened again a couple weeks later. This time, Mike was at work and had gone to pick some files up off the floor when the same pain started again. Although he didn’t know it at the time, the pain was caused by multiple micro-fractures.

At the doctor’s office, Mike was referred to a hematologist who believed he had a vitamin B12 deficiency and recommended he go home and take some supplements. “I was so lucky that day to have my wife with me who is a nurse and has a lot of experience navigating the healthcare system,” Mike recalls. “Angela insisted it was not a B12 deficiency and said we would not be leaving with that diagnosis, which was what finally pushed them to order a bone survey. That same afternoon, I was X-rayed from head to toe, which is how the microfractures were found.”

About a week later, Mike noticed an email in his medical portal with test results. He assumed this was good news about his health issues and never imagined he would receive a diagnosis without a phone call.

“I opened the message and must have read it ten times. I thought I must have been missing something, so I called my wife and read it to her,” Mike says. “When she hesitated, I realized that this was real and that I had cancer.”
Finding the Right Doctor

After receiving his diagnosis for multiple myeloma, Mike’s doctors started him on the standard treatment of chemotherapy.

“At that time, the only thought in my head was the fear of dying. I had been told that the life expectancy with this cancer was four years, and only three months prior my first granddaughter had been born. I was devastated that I wouldn’t be there to see her grow up,” Mike says. “Other options for treatment or clinical trials weren’t brought up by my doctors, so I didn’t know it was even possible for me.”

During the early days of treatment, Mike had the opportunity to change health insurance providers, which gave him much more flexibility in finding specialists for his cancer. Through research, the couple found Dr. Bart Barlogie, who had founded the UAMS Myeloma Center in Arkansas. Mike made the difficult decision to temporarily move to Arkansas and receive treatment at the center.

“I was down there for nine months and during that time I had two stem cell transplants and tried a couple different treatments,” Mike says. “My cancer wasn’t going into remission yet, but I was starting to feel a lot better, which is when I started becoming close with my doctor and appreciating his way of treating patients.”

Mike’s doctor believed in an individualized treatment approach, something that had been missing from his care when he was first diagnosed. “I highly value his feedback and we developed a great friendship. He welcomed me to ask questions and get second opinions from other doctors, which is so important when you are dealing with cancer. Any doctor who discourages you from getting another opinion does not have your best interest in mind,” Mike says.

Mike and Dr. Barlogie discussed his treatment, and Dr. Barlogie encouraged Mike to consider clinical trial participation. After Dr. Barlogie retired, Mike, having tried nearly every publicly available myeloma drug, sought new options, and opted for clinical research.

I knew from my wife’s work in clinical research that these studies are essential to developing new medicines. If I could, I wanted give back to other people with myeloma who might need this medicine in the future. For me, clinical trials felt like the right thing to do.”
Clinical Trial Participation & Success

Mike has been in two clinical trials at the University of Pennsylvania, both with incredible results. The first study was in 2020 for a treatment called Teclistamab, sponsored by Johnson & Johnson Innovative Medicine. The trial tested two different ways of administering the treatment, and Mike received his subcutaneously, as a shot into his stomach.

“My doctors said results may take a bit longer this way, so I wasn’t expecting anything immediate. It was only the first mini dose,” Mike explains. However, within 48 hours, Mike was in excruciating pain to the point where he could barely speak. During this, he received a phone call from his doctor who let him know that his cancer levels had dropped 99%. The pain Mike had been in was caused by something called cytokine release syndrome, and while difficult to endure, meant that the drug was effective for him.

“I wish I had known about it before. Maybe anticipating the pain would have made it easier to get through,” Mike reflects.

After finishing up with Teclistamab, Mike’s cancer was undetectable for 18 months. However, because there is currently no cure for multiple myeloma, the cancer tends to have a recurrence. In 2022 when his cancer returned, Mike signed up for another clinical trial run by Genentech for a treatment called Cevostamab. Within two weeks of starting the trial, Mike’s cancer was in total remission and has remained undetectable since.

Patient Advocacy Work

Recently, the drug Teclistamab was approved by the FDA and is now available to multiple myeloma patients as Tecvayli. “It’s incredible knowing that my participation in a study contributed to a new treatment for cancer,” Mike notes. “My experience has driven me to become more involved with patient advocacy, so I can share my story with others and be the impetus for significant change in our broken healthcare system.”

Over the last decade, Mike has spoken at various events and conferences about his experience and the importance of clinical research participation.

In your lifetime, you will likely either be diagnosed with cancer, or have a loved one who is diagnosed. I don’t want people to feel frozen by fear when it happens like I did at first. Having the resources and knowledge you need ahead of time can change that experience and outcome entirely,” Mike says. 

Together, Mike and Angela founded Speaking on Cancer Patient Advocacy (SoCPA), a non-profit with a mission to empower cancer patients and improve their treatment outcomes. The website includes helpful resources for individuals who have just been diagnosed, including guides to reading lab results, and education about different types of cancer.

Looking ahead, Mike is excited about some upcoming projects SoCPA has planned to help promote cancer awareness and education in larger companies and health care systems. His aim is to encourage companies to invest more in employee health and education, ultimately creating an environment where colleagues are comfortable navigating a cancer diagnosis in the workplace and know what their treatment options are.

“Being involved in patient advocacy and meeting such wonderful people has kept me motivated to work even harder.”

Additional Resources:

https://www.socpanow.com/index

https://themmrf.org/multiple-myeloma/

https.myeloma.org  

 

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Latest CISCRP Patient Survey Reveals Diversity Gaps, Yields 5 Tips For Improvement

Despite the FDA introducing a draft guidance document two years ago that outlined strategies to improve minority representation in clinical trials,4 recent studies suggest that racial and ethnic minority populations continue to remain underrepresented across the board, from ophthalmology to oncology studies.5-7 More effort is needed to understand the views of underserved groups, such as ethnic and racial minorities, toward clinical research to improve their enrollment and participation.1

Because it is also important to periodically reassess the values, perceptions, and barriers that may preclude clinical trial participation among potential trial volunteers, the Center for Information and Study on Clinical Research Participation (CISCRP), an independent nonprofit organization in Boston, conducts a biennial global survey called the “Perceptions & Insights” study, assessing public and patient views and experiences in clinical research. The CISCRP 2023 study8 offered valuable information on participant recruitment, improvement of trust and diversity, and optimized technology use as well as adaptations to post-COVID changes in clinical research. By analyzing these findings, we help provide pharmaceutical companies, CROs, regulators, and other clinical leaders with insights and strategies to improve clinical research inclusivity, efficiency, and engagement.

Here, we outline five such opportunities to improve clinical trial recruitment and participation, especially among ethnic and racial minority groups:

1. Increase trial access through HCPS and other trusted information sources.

The foundation of successful clinical trial recruitment and retention lies in the trust, reliability, and accessibility of information sources. For pharmaceutical companies, this underscores the critical importance of prioritizing transparency and actively engaging with patients to make it easier to participate in clinical research studies. By openly sharing information on the risks and benefits of treatment in a language accessible and understandable to patients, study sponsors can significantly enhance public trust.

The outcomes of our 2023 survey further underscored the critical role of physicians and HCPs in this area. We found that HCPs continue to be the most trusted source of information regarding clinical trials. In 2023, an encouraging 23% of potential participants (20% among Hispanic respondents compared to 23% among non-Hispanic respondents; 16% among Black or African Americans compared to 24% among White respondents) reported being asked by their HCPs to consider trial participation, a significant increase from 14% in 2021. While this trend highlights the pivotal role of HCPs, it is merely a starting point toward a more personalized, trust-based approach to engaging with potential trial participants, as our study indicated that the majority (66%) still do not consider clinical research as an option when discussing treatments with their doctor.

Pharmaceutical companies and stakeholders should prioritize leveraging trusted sources of information to build trust and facilitate access to clinical trials. This might mean collaborating more closely with physicians and HCPs — particularly those practicing in minority community settings — to actively strengthen educational efforts, initiatives, and feedback loops between HCPs and trial sponsors. For example, this could include creating clear, accessible content that HCPs can easily review and share with potential participants, providing HCPs with e-learning modules on the latest trial protocols, or easy-to-access online portals that could feature regular updates on upcoming trial recruitment, progress, and outcomes on ongoing or completed trials.

Likewise, patient advocacy and support groups also play a pivotal role, especially among minority communities, with email invitations proving to be the most effective recruitment method. Patient advocacy groups proved to be especially successful in increasing clinical research engagement among Black respondents (12% reported being asked to participate by an advocacy group) compared to White respondents (6% reporting the same), highlighting the importance of leveraging these groups for broader, culturally sensitive trial outreach.

2. Increasing diversity and building trust with patients is mutually beneficial.

The diversity of trial participants is a critical factor that directly influences the trust and relevance of pharmaceutical companies among diverse populations, particularly in light of historical and current injustices in clinical research. The CISCRP study showed that trust in pharmaceutical companies among Black respondents (32%) was more likely to be increased if a company demonstrated workforce diversity. This proportion further increased to 52% when trials included a diverse set of participants.

These findings further reinforce the importance of sponsors to consider targeted and inclusive strategies, which may involve a combination of:

  • implementing policies and practices aimed at recruiting a diverse workforce,
  • ensuring clinical trial participant pools reflect the demographic diversity of the population affected by the condition, and
  • actively engaging with ethnic and racial minority groups and community leaders through direct outreach programs, employing culturally sensitive and language-appropriate materials and communication strategies to effectively engage potential participants.
3. Expand accessibility through alternative site models.

Venturing beyond the traditional clinical trial setting also can offer unique opportunities to enhance the convenience of participation and significantly improve the diversity of trial participants at the same time. According to our study, 46% of participants overall were very willing and 38% were somewhat willing to go to a local pharmacy for their study visits. This trend also was observed among various demographic groups (percent responses of “very willing”: Black: 53%, White: 48%, Hispanic: 44%, Asian 34%).

A separate CISCRP survey performed 10 years ago10 highlighted the benefits of pharmacists directly engaging with patients and providing education about clinical trials. The concept of using pharmacies as alternative sites for studies gained traction, especially when CVS and Walgreens launched their clinical trials initiatives in the early 2020s.11 Despite the noted participant openness, however, 15% of our study respondents were still not very, or not at all, willing to consider a pharmacy site, citing concerns with the facilities/lack of privacy, confidentiality of information, quality of care, and quality of answers to questions.

Outside of the traditional clinical site model, respondents were receptive to three different clinical study models (i.e., hybrid, mobile nurse, and remote) and provided high marks for “very willing to participate” — 43%, 44%, and 43% respectively for each model. Furthermore, having access to some trial site visits closer to home or having some visits conducted virtually were both highly chosen factors for long-term retention, at 66% and 58%, respectively.

CROs and pharmaceutical companies are encouraged to form partnerships with pharmacies and other local health facilities to develop innovative alternative trial sites and clinical study models. Sponsors, however, should carefully establish standardized protocols for alternative clinical sites that prioritize participant convenience and care, ensure appropriate staffing and staff training, and communicate where participant information is securely managed.

 

4. Leverage technology for optimized recruitment, retention, and enhanced participant experience.

The integration of technology in clinical trials is yet another important factor for improving recruitment and diversity. In our study, 34% noted it was very important to use mobile applications, while 32% expressed interest in using eConsent. Technology adoption was notably higher among Hispanic and Black respondent subgroups, and both groups were more likely to cite the importance of mobile app availability and the ability to review and sign documents in an electronic format compared to non-Hispanic and White subgroups. Additionally, 66% of respondents were comfortable using their personal computers for clinical trial data entry, 61% with wearable devices and clinical apps, and 58% with video conferencing with physicians. Text messaging emerged as another helpful tool, with 65% of respondents indicating its usefulness. The use of text messaging in patient communications also has increased since 2021 (22% compared to 29% in 2023). While technology offers significant benefits, some concerns were again noted, with 18% of respondents indicating that smartphone or tablet use during studies disrupted their daily routines.

Pharmaceutical companies might consider focusing on creating secure, intuitive, and user-friendly mobile applications that serve as one-stop portals for trial information, consent, and data collection. Seeking direct input from trial participants and pilot testing the initiative with ethnic and racially diverse user groups before launching these programs will help ensure that these technologies meet the needs of diverse communities. Using wearable devices, text messaging, smartphone apps, and video conferencing may also help to maintain continuous engagement with trial participants and help improve remote monitoring and communication.

5. Retain post-COVID-19 progress made in clinical trials.

Despite its challenges, the COVID-19 pandemic significantly accelerated the use of technology and innovative trial models between 2020 and 2022, and many industry professionals were hopeful about the lasting positive effects of these technological advancements. However, when we compared our 2023 study findings with the data from 2019 and 2021, we noticed a shift to pre-pandemic practices, including lesser use of eConsent forms and reduced participant communication during and after the trial. For example, from 2021 to 2023, there was a decrease of 12% for eConsent usage and 9% for video consent usage.

Pharmaceutical companies should continue to stay agile and adaptive in response to evolving trends and challenges while maintaining the momentum toward more flexible, technology-driven trial models. One such strategy may involve commitment to the #NoGoingBack initiative12, ensuring that innovations and efficiencies gained during the pandemic are not lost but, rather, built upon. Emphasizing clear communication during and post-trial, timely feedback, and quality of care in clinical trials may perhaps help. This includes continuing to leverage virtual visits, remote monitoring, and digital consent processes, and ensuring these practices solidify in the clinical trial landscape.

Putting It All Together

By enhancing trust and diversity, expanding access to alternative clinical sites, and leveraging technology use, the pharmaceutical industry and stakeholders may drive significant advancements in clinical research and move toward a more inclusive and participant-friendly future. We propose several strategies that, if adopted, would help improve access and deepen engagement in clinical trials, especially among ethnic and racially underrepresented communities.

About the CISCRP 2023 Perceptions & Insights Study

The CISCRP 2023 Perceptions & Insights Study provides a global overview of current trends, challenges, and opportunities within the clinical trial industry from a patient and public perspective. The questionnaire was developed with input from a cross-functional workgroup — including representatives from pharmaceutical and biotechnology companies, patient advocacy groups, and CROs. It was distributed online from April – June 2023 with support from Clariness, James Lind Care, Benchmark Research, and Rare Patient Voice and resulted in responses from 12,017 participants. This article does not capture in totality the insights derived from the study; however, you may access additional resources here: https://www.ciscrp.org/results-from-ciscrps-2023-perception-insights-study/. Also of note, a peer-reviewed article that takes a deeper dive into the diversity insights captured by the survey respondents is forthcoming.

By Annick de Bruin, CISCRP

References:

  1. Raven-Gregg T, Shepherd V. Exploring the inclusion of under-served groups in trials methodology research: an example from ethnic minority populations’ views on deferred consent. Trials. 2021;22(1):589. doi:10.1186/s13063-021-05568-z
  2. MacLennan DL, Plahovinsak JL, MacLennan RJ, Jones CT. Clinical Trial Site Perspectives and Practices on Study Participant Diversity and Inclusion. Clin Pharmacol Ther. 2023;113(3):670-679. doi:10.1002/cpt.2817
  3. Corneli A, Hanlen-Rosado E, McKenna K, et al. Enhancing Diversity and Inclusion in Clinical Trials. Clin Pharmacol Ther. 2023;113(3):489-499. doi:10.1002/cpt.2819
  4. Russell ES, Aubrun E, Moga DC, et al. FDA draft guidance to improve clinical trial diversity: Opportunities for pharmacoepidemiology. J Clin Transl Sci. 7(1):e101. doi:10.1017/cts.2023.515
  5. Bains A, Osathanugrah P, Sanjiv N, et al. Diverse Research Teams and Underrepresented Groups in Clinical Studies. JAMA Ophthalmol. 2023;141(11):1037-1044. doi:10.1001/jamaophthalmol.2023.4638
  6. Aldrighetti CM, Niemierko A, Van Allen E, Willers H, Kamran SC. Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies. JAMA Netw Open. 2021;4(11):e2133205. doi:10.1001/jamanetworkopen.2021.33205
  7. O’Donoghue J, Luther J, Hoque S, et al. Strategies to improve the recruitment and retention of underserved children and families in clinical trials: A case example of a school-supervised asthma therapy pilot. Contemp Clin Trials. 2022;120:106884. doi:10.1016/j.cct.2022.106884
  8. CISCRP 2023 Perceptions and Insights Study. Accessed February 2024. https://www.ciscrp.org/services/research-services/perceptions-and-insights-study/.
  9. CISCRP. Journey to Better Health Mobile Exhibit. Bringing Clinical Research Information to Local Communities. Accessed February 2024. https://www.ciscrp.org/mobileexhibit2023/
  10. Getz, Kenneth; Leveraging Pharmacists as a Channel to Raise Clinical Research Literacy Among Patient Communities. Applied Clinical Trials, Vol. 22, Issue 10. October 2013. Accessed February 2024. https://www.appliedclinicaltrialsonline.com/view/leveraging-pharmacists-channel-raise-clinical-research-literacy-among-patient-communities
  11. Natalia Mesa. “Walgreens Launches Partnership with Prothena to Compete with CVS, Walmart” May 01, 2023. Biospace. Accessed February 2024. https://www.biospace.com/article/walgreens-launches-partnership-with-prothena-to-compete-with-cvs-walmart/
  12. #NoGoingBack. Accessed February 2024. https://www.nogoingback.health/.

Round-Up: Highlighting Recent Health Literacy Educational Materials

What is a placebo, Eligibility criteria, and How to find a clinical trial 

CISCRP is dedicated to providing educational resources and empowering people through all steps of clinical research participation. This includes everything from general awareness to what to expect during a trial. Or, as with one of our newer brochures, how to actually find a trial. We recently published three resources to help people understand certain parts about trials. 

Especially during Health Literacy Month in October (but also all the time), we can’t emphasize enough the importance of providing health-related education and tools to patients and the public. We’re constantly reviewing our materials and getting feedback from the public so we can fix any gaps in our resources. The ultimate goal is to provide guidance to help with decision making. To do this, we provide details, such as potential risks and benefits, clear action items, and a summary of possible options. And we strive to do this without actively encouraging participation and encouraging the reader to make the best decision for themselves and their loved ones. 

Each resource CISCRP creates, such as brochures, goes through a thorough review process to ensure the readers’ needs and the above goals are met. This includes writing, several editing steps, getting feedback from a Review Panel and surveys, getting internal feedback, and approval from an IRB. 

What is a Placebo?

If you asked a member of the public to pick the first word that comes to mind when they think “clinical research,” there’s a good chance they would say placebo. And then if you asked them to define it, they may say something like, “It’s just a sugar pill.” Since there’s a lack of awareness about clinical trials and how they work outside of CISCRP, that’s a fair guess. But it’s much more complicated than that. To help clear up the confusion for patients and the public, we updated our What is a Placebo? brochure.

The idea of a placebo has many parts. There’s why it’s used, how it’s used, and the “placebo effect,” for starters. There’s also the concern of not knowing whether or not a participant might receive a placebo. The brochure explains why it’s important that participants don’t know whether or not they receive a placebo, and why they can’t choose their treatment. It also explains how to know whether or not a placebo is even a possibility.

Then there’s the issue of randomization and blinding. How do researchers determine who receives a placebo? How does anyone know who gets what? Because many readers prefer visual mediums, we created a graphic structured a bit like a flow chart that shows treatment being randomized and that the participants and trial doctors usually don’t know who’s receiving what.

Eligibility Criteria for Clinical Trials

 

Our team—specifically, our events team that directly engages with different communities—heard from many different people at events that patients who want to join a trial are confused if they are told that they cannot join. Some people feel offended or upset, thinking that they were denied because of personal reasons. However, they may not be aware of eligibility criteria. So, we created an Eligibility Criteria for Clinical Trials infographic explaining the basics.

The immediate question many readers might have is why does it even matter? As mentioned in our graphic, eligibility criteria are necessary to protect participants’ safety and to get the most accurate results possible. Hopefully this explanation helps readers understand why researchers can allow only certain participants to join.

It’s vague to simply say “there are specific reasons why you can or can’t join,” so we provided some examples of both inclusion and exclusion criteria. This ranges from the most obvious, such as having the condition a treatment is designed to help, to other factors someone may not even think about, like needing to be a certain weight to join, or not being able to join because of having previous treatments that would affect how the trial treatment would work.

The infographic also provides patients who do not qualify or who did not want to participate with other ways to get involved and contribute to research. For example, participating in an observational study, joining an advisory board, or even simply discussing with friends and family.

And, of course, there may be other trials they can join.

How to Find a Clinical Trial

We have lots of information about clinical research participation, including helping to decide if participation is right for you (see our brochure, Should I Participate?). But to even get to that stage, a person needs to know How to Find a Clinical Trial. Some patients may think that their doctors will tell them about any trials they might be able to join, but that is not always true.

The process is not as simple as just finding a trial, though. As we explain in the brochure, there are multiple steps beyond simply finding a trial and joining. Before someone even starts looking, a patient should understand their condition to help identify which trials might be best for them.

As with anything in today’s world, looking online is a great place to start looking for a trial, so we provided three main clinical trial search sites based on location. We recommend putting together a list of trials that interest a potential participant. Then we suggest putting together a list of questions for trial staff, and then contacting them.

This is only the first step of deciding whether to join or not.

Conclusion

Clinical research participation is a complicated process, from thinking about joining, to figuring out if you should join, and then actual participation. We’ve created the three resources listed above to help people in all steps of the process, but we have a lot more in our Resource center that support patients, caregivers, and others across all parts of research.

One of CISCRP’s missions is to partner with patients and the public. This includes working together with patients, community members, and healthcare professionals to create our brochures, infographics, and other materials. We are always open to feedback on our materials or any other resources we should make. Feel free to contact us!

Written by: Scott Finger

Community Trust: The Foundation for Fostering Diversity in Clinical Trials

Featured Article in our October 2023 Patient Diversity Campaign

As an industry, we must recognize and address a complex problem: racial and ethnic minority populations have historically been underrepresented in clinical trials. Over time, it has become widely recognized that this issue is a systemic problem, not a participant one.

What does that mean? It means there have been limitations in clinical research that aren’t isolated, but deeply embedded in our processes and systems. These limitations can include anything from protocol complexity to a lack of diversity in the clinical research field, which can create barriers to ensuring participation. This can have long-term implications for equitable access to medicines.

We’re making progress. In the past few years, Merck has increased participant diversity in our trials. Much of our progress is thanks to our community collaborators, whose engagement is vital in helping us understand and solve the complex issues at play.

Written by: LaShanda Gordon

Defining community collaborations

For me, community is synonymous with home. I grew up in Selma, Alabama. Many consider it the seat of the Civil Rights movement, but it is also the small southern town that taught me the power and importance of community.

At Merck, I’m a Diversity Program Lead for Clinical Trials, and part of my job is working directly with community-based organizations and leaders to provide valuable resources about clinical research. I also help our company and communities make connections to try to improve trial access. An important step for increasing clinical trial participant diversity is helping to ensure everyone can make informed decisions about their health, no matter who they are or where they live. That starts with education.

Over my years in the industry, I’ve learned something valuable from every person, project, and community. Some of my takeaways include:

  • Learning never ends. Every engagement helps improve our understanding of how an organization operates, the unique needs of a particular community, or what approach would be most impactful. We need to listen.
  • Start with the community-based organizations. They are the most knowledgeable about what their community needs. In addition, they are connectors and can be a bridge to valuable resources, insights, and additional partners.
  • Each community is unique, with its own set of challenges and strengths. For example, the needs of an African American community in the Bronx are different from one in rural Alabama – we cannot retrofit strategies from one to the next. It is important to listen and learn about the particular needs of the community.

Building trust

Being a good collaborator starts with trust. Without that, we can’t build a path forward. It’s the foundation to everything else, but it can be the hardest part to get right.

I’ve found the best way to earn trust is by listening. We want to ensure our partners feel heard – especially because we use insights from them to build our approach. It’s also important to ensure we’re not guided by preconceived ideas about what they need. If you ask what needs to be done, the community will tell you.


At Merck, we recently established a U.S. Community Advisory Panel, with patients, caregivers, health care providers, and community members from diverse backgrounds who – along with our existing Patient Advisory Panel – share insights that help us incorporate the patient perspective in our site and patient engagement methods. We listen to them, and we learn a lot.


The best part is that we are seeking their guidance early, when it can have the greatest impact. For example, they are helping us design our protocols to be patient-friendly by reviewing the number of in-person site visits and inclusion/exclusion criteria for trials. That way, we’re able to address potential barriers as early as possible in the process.

Putting people back into collaborations

Too often, we forget that collaborations are about relationships, and those are built between people who trust each other. People are also the focus of our trials.

When we make our efforts more about people, we must also think bigger than trials and focus on wraparound care like disease education and screenings. There are still many who are not aware that they may be eligible for a clinical trial. It’s important that we prioritize education and awareness, long before there is a study to enroll in.
We can only earn trust as a collaborator in the continuum of a community’s health care. Our support can’t be exclusive to one-off projects. We must be present and active in what we help build.
Most importantly, we must remember the thread that runs through it all, the real definition of the word community: people.

Authored by: LaShanda Gordon

A “Day in the Life” of a Medical Writer at CISCRP

It is Monday morning at the CISCRP office, and I open my computer a few minutes before 9 AM and prepare myself for a new week. I normally work from home on Mondays, but a few colleagues who also often work from home were planning to come into the office in downtown Boston today, and I wanted to join them.

As a Medical Writer, I write about clinical trials. Every clinical trial is an incredible achievement, and one that involves collaboration between experts in many areas. They also could not happen without the curiosity and bravery of clinical trial participants, and their steadfast belief in the medical breakthroughs of the future. My job is to tell the story of clinical trials in plain language, with a focus on the big picture. What happened during the trial, and why? What did we learn from the trial? What do we still need to learn?

Our mission at CISCRP is to empower people to make informed decisions about their health and about their participation in clinical research. And this mission is personal. In addition to a Medical Writer, I am also sometimes a patient. As a patient, I know first-hand that it is very difficult to access, let alone interpret the results of clinical research. While doctors and other trusted people can help, navigating the flood of health information online, in news stories, and in advertising is overwhelming. It can be tempting to tune it all out. Yet, it is vital to understand how the newest clinical research impacts our own health care, and to be able to weigh the benefits and risks of participating in clinical research. To do so, we need access to clear, accurate, and unbiased information about clinical trials.

As I ease into the day, I check the stage of each project I am working on. One of my favorite things about this job is the opportunity to learn about many different areas of clinical research through the range of projects I work on. I check my inbox and see an email from one of our editors, who has just reviewed a Plain Language Summary, or PLS, that I had previously drafted. A PLS is a summary of clinical trial results that the trial sponsors distribute to the trial participants and sometimes publish on their website. It takes me about half an hour to go through the editor’s comments in the PLS and make the necessary changes. I send it back to the editor so they can review it. If the editor decides the document is ready, they will give their approval to send it to our graphic designer. During this step, the graphic designer creates visualizations that incorporate details about the trial design and results. This helps make the information easier to read and understand.

The writers, editors, and graphic designers at CISCRP work together to maintain consistency across different summaries, avoid unnecessary jargon that might be confusing, and keep the language and visuals engaging and approachable. We have honed our craft in large part due to feedback from Review Panels on our materials. Review Panels are composed of volunteer patients, patient advocates, and members of the public who give feedback on every clinical trial communication that CISCRP works on. Review Panels continually give us ideas and suggestions for how to make our materials as clear and engaging as possible. With everything we create, the perspectives of patients are always top-of-mind.

Next on my schedule is a “kick-off” meeting with a team from the sponsor of the trial about another PLS project that is getting started. This team from the sponsor may consist of patient engagement officers, trial physicians, and statisticians, who will all help in the planning and drafting process. A Project Manager from CISCRP leads off the meeting, which involves explaining and planning the drafting process and timeline. As we move forward with drafting, the Project Manager will ensure that everyone is moving together and that the project is on time. Next, I present an outline of the PLS itself that I previously prepared for the meeting. Preparing the outline involved going through the Clinical Study Report and other source documents provided by the sponsor, familiarizing myself with the trial, and identifying key pieces of efficacy and safety data to include in the PLS. In the meeting, we discuss the outline, go over any questions, and ensure that everyone is happy with the plan for drafting.

Many of the clinical trial materials CISCRP creates are done in collaboration with, and funded by, the trial sponsors. Sponsors, which are often pharmaceutical companies, are realizing increasingly that patient engagement is important for their success. In addition, the European Union Clinical Trials Regulation Annex V will require that a PLS be written for each clinical trial done within European Union (EU) nations. The EU is also requesting plain-language Protocol Synopses to be written at the beginning of trials, which CISCRP also helps to prepare. This shift towards patient engagement and plain language communications is a positive step forward towards improving literacy about health and clinical research, and I am proud to be a part of it.

After the kick-off meeting, I write down some notes about our discussion while it is still fresh on my mind. Next, I switch gears to another PLS. Another writer drafted this one, and I will be performing quality control, or QC. Given the complexity of clinical trials and the volume of clinical trial documents, it is essential to have multiple sets of eyes reviewing the draft throughout the process. My job now will be to verify every piece of data and every detail about the study design, and to otherwise “fact-check” the document. QC is a rewarding process for all involved. I enjoy getting a “crash-course” in a specific clinical trial while performing a QC. The results and design of clinical trials can be fascinating. From the other perspective, I am always grateful to receive QC results from another writer, as it provides additional confidence that we are creating accurate and high-quality materials.

I finish the QC right at lunch time. The weather is warm, so we head outside to a nearby plaza to enjoy some lunch, get to know our new colleagues, and hear stories about each other’s weekends.

Once back inside, I decide to spend the rest of the afternoon drafting a Plain Language Summary of Publication, or PLSP. Like PLSs, PLSPs are summaries of clinical trial results. However, rather than using the lengthy documents from the trial sponsors as the source material, they use trial results that have been published in an academic journal. Like the publication it is based on, the PLSP will ultimately go through a peer review process and be published in a journal. Compared to PLSs, PLSPs are often heavier on graphics, which means they typically involve close collaboration between the writer and graphic designer. I take time during the afternoon to experiment with different ways of explaining key concepts and presenting the trial results. I use PowerPoint to make “sketches” that our graphic designer will, in turn, use as inspiration to create the visualizations. There are no government regulations to define the scope of PLSPs like there are for PLSs, which leaves more space for creativity. I enjoy this freedom, and believe it is necessary to continue improving and innovating in our work.

By 5 PM, I am happy with my progress on the PLSP draft. I pack up my laptop and say goodbye to my colleagues. I reflect on the day as I head for the elevators.

Written by: Sam Entwisle

Plain Language Protocol Synopsis 101

What is a Plain Language Protocol Synopsis (PLPS)?

A clinical study protocol (CSP) is a comprehensive document that outlines important aspects of a clinical trial including the goals of a trial, the trial design, and more. A protocol synopsis is a summary of the CSP, but it still contains highly complex scientific terms, acronyms, and processes not readily understandable to a non-expert. A protocol synopsis written in plain language that can be understood by a wider, non-expert audience can be a beneficial resource for ethics committees, site staff, and potential trial participants. 

Additionally, Annex 1, D.24 of the European Union’s Clinical Trials Regulation (EU CTR) 536/2014 outlines that for future clinical trial applications, “The protocol shall be accompanied by a synopsis of the protocol.” The specific content to be included in the protocol synopsis is further outlined in Question 5.8 of the EU CTR Questions & Answers document. Some of this information is included below as a reference (taken from version 6.4, dated February 2023).

5.8 Question: What should be included in the protocol synopsis described in Annex I, D.24 ? 238.

Answer: Sponsors should include the information below in the protocol synopsis (maximum two pages) to be submitted with the clinical trial application according to Annex I D24 … Sponsors should consider making the synopsis understandable to a layperson. 

Further specified are the nine requirements from the clinical study protocol (CSP) that must be included in this two-page protocol synopsis. These nine requirements are:

  1. Trial title
  2. Rationale
  3. Objectives
  4. Primary Endpoints
  5. Secondary Endpoints
  6. Population
  7. Trial design
  8. Interventions
  9. Risks and Benefits

CISCRP’s Health Communications team was thrilled to learn about this new type of deliverable because we specialize in, and are passionate about, creating easy-to-understand plain language documents. With the implementation of the EU CTR in January 2022, sponsors have increasingly shown interest in developing plain language protocol synopses with CISCRP to be included as part of their clinical trial applications.

When conceptualizing our version of the plain language protocol synopsis, a primary goal became to make a graphically designed template that would include all the nine required elements from the regulation, be written in plain language, and remain under the two-page limit. After we had the template, we were able to put it to work for several trials.

What We’ve Learned from Writing Plain Language Protocol Synopses

Some challenges become immediately apparent when writing a plain language protocol synopsis under the guidelines set out by EU CTR. The first challenge is the two-page limit. Especially since plain language often requires more room to explain complex terms, and health literacy best practices require ample white space.

Additionally, from a more technical standpoint, tables have proven to be an essential asset for presenting the objectives, endpoints, and trial design. A table helps improve the readability in specific scenarios such as aligning a singular objective with multiple endpoints. For trial design, having a table that outlines the different treatment arms, medications, doses, administrations, and duration serves as a great alternative to piling all that information into a paragraph.

We have also compiled a robust glossary of plain language terms from our years of experience writing and user-testing plain language summaries. When writing a PLPS, we can utilize terms from this glossary to increase efficiency when drafting and increase consistency among all plain language documents for a specific sponsor. This consistency helps patients who may read a PLPS, informed consent form, and/or a trial results summary over the course of a given trial. It also helps sponsors by speeding up the process and the amount of work needed to create these documents.

The second and more elusive challenge is that, as a new deliverable, the target audience has not yet been clearly defined. In the meantime, we are trying to give it the broadest appeal possible. We take special care to explain as much as possible for a layperson audience while still making a document that can be utilized efficiently in an industry or medical setting.  

Another tip that we recommend is utilizing graphics and color coding as much as possible. Applying colors to different treatment groups in a table can clear up what specific treatments, doses, or activities apply to that group, without adding any words. Also, using icons can increase readability and provide a visual break in an otherwise text-heavy document.

One final consideration is an optional third page glossary to define any number of the complex terms that were included in the two-page PLPS. This would not necessarily be for submission purposes but could be used by the clinical trial staff to facilitate conversations with potential patients. The PLPS has the potential to be a multi-purpose document and provide value beyond the clinical trial application process.

Should Sponsors Add a Plain Language Protocol Synopsis to Future Clinical Trial Applications?

Based on the regulation, it seems that some form of a protocol synopsis is required. As far as the plain language part, it seems some sponsors are waiting to see what others are doing and how this rule is enforced, while others are making plain language protocol synopses a priority.

Here at CISCRP, we think the more plain language, the better. We believe engaging a wider audience in the clinical research process is an important and worthwhile endeavor. So, when the time comes to start writing your protocol synopses, why not take the next step and make them as accessible as possible to all audiences?

Written by: Zack Fey

References:

EU CTR 536/2014 Q&A p. 54-55

EU CTR 536/2014 p. 58

https://health.ec.europa.eu/medicinal-products/clinical-trials/clinical-trials-regulation-eu-no-5362014_en

CISCRP’s Finding Treatments Together Brochure for LGBTQ+ Communities

Our Approach to Codeveloping an Educational Resource for the LGBTQ+ Community

When creating a brochure for diverse populations of people it’s important to consider an expansive definition of diversity that includes, but is not limited to, ethnic and racial identity. In this case, our intended audience included Lesbian, Gay, Bisexual, Transgender, Queer, Intersex, and Asexual people (LGBTQ+), in addition to all other sexual orientations, gender identities, and gender expressions. Given that sexual identity intersects with every other form of identity, we had to take particular care to ensure that the diverse perspectives of this community were represented in the brochure. In practice, that meant acknowledging and giving space for people to speak about the many identities they inhabit and how those other identities inform their LGBTQ+ experiences.

Our discussions with subject matter experts and members of the public from the LGBTQ+ community also showed us that it was most important to give members of this community the tools they needed to navigate clinical trials in a such way that gave them agency and outlined the initial steps for making change by participating in advocacy groups and as members of the public on ethics committees.

Once we incorporated feedback from the aforementioned SMEs and community members, we tested the brochure with a survey sent to 500 members of the LGBTQ+ community to ensure that the brochure was culturally competent, neutral, and informative. This process helped make sure the topics, language, images, and design are appropriate and engaging. We also received feedback on how effective our brochure was for raising awareness about the importance of LGBTQ+ participation in clinical research.

Key Insights We Learned About Including LGBTQ+ People in Clinical Research

Respondents emphasized that the onus for navigating clinical trials as a member of the LGBTQ+ should be shared: researchers must acknowledge that the determinants of health and the ability to participate in clinical research are multidimensional. For example, one’s lived experience, geographic location, ability to access health services and procedures are also important variables when considering how to make treatments safe and effective for everyone.

To that end, this brochure was created to raise awareness about clinical trials and to identify the barriers to inclusion, and the potential concerns members of the LGBTQ+ community may have with participation in clinical trials. To do this well, we had to consider how history, culture, and even current events may structure a group’s perception of clinical trials. Our initial research with SMEs and community advocates brought up historical wrongs, such as the US federal government’s hostility towards HIV/AIDS research, that have left enduring legacies of mistrust and suspicion towards clinical trials. However, the source of this mistrust isn’t confined to the past: many of our conversations with SMEs centered on current legislation at the state level that targets trans and non-binary people by denying them necessary medical care has likely had a chilling effect on their seeking medical care or clinical trials.

When we spoke about these issues to members of the LGBTQ+ community we received critical feedback that raising awareness was important but insufficient. In order to develop the most helpful version of this brochure, we were asked to highlight the ways in which the lack of action from researchers to be more inclusive negatively impacted access to care, willingness to participate, and the overall experience of participation for those who did partake. They advocated for switching the narrative from one that asked LGBTQ+ people to navigate the pitfalls of clinical trials, to one that also put the onus on researchers to accommodate their needs. Reviewers emphasized that this approach moved the onus of accommodation from participants to researchers.

Next Steps Towards LGBTQ+ Inclusion in Clinical Research

However, there is so much more work to be done. Collaborating with LGBTQ+ communities to raise awareness about representation and inclusion of LGBTQ+ people in clinical research must be an ongoing efforts in all spheres of the clinical research industry, as conditions are continuously changing. In practice, these efforts would include  outreach, awareness, and empowerment of the communities with education and resources to help them participate in their own advocacy.  In addition to empowering participants, researchers must initiate their own educations to ensure they are adopting more inclusive practices.

Testimonial

It gives me great pleasure to share my testimony on working with the Center for Information & Study on Clinical Research Participation (CISCRP) for a number of years; most recently on their LGBTQ+ brochure project, the development of which I had the incredible privilege of being a small part of. From its very inception, it was clear that this was not just ‘another brochure,’ but a meaningful step towards addressing the long-standing gaps in clinical trial participation and research among the LGBTQ+ community. The journey towards crafting CISCRP’s comprehensive and inclusive resource once again demonstrates not only their ongoing, deep commitment to highlighting the urgent need for further work to ensure genuine inclusion but also to further explore the unique challenges faced by some of the most under-resourced populations in the realm of clinical trials.

The development process, as is always the hallmark of the CISCRP team, was again marked by unwavering dedication, collaborative effort, and an unyielding commitment to authenticity. We had the pleasure and privilege of engaging with community members, medical professionals, and LGBTQ+ advocacy organizations to ensure that every aspect of the brochure resonated with the lived experiences of those for whom it was designed to serve.

This brochure is a tool – a catalyst for change – that has the potential to spark meaningful conversations, challenge preconceptions, and drive research policy reforms. I heartily commend the CISCRP team for recognizing the importance of inclusivity and continuing their critical work to dismantle stigmas, advocate for change, and ensure representation among all individuals at the table – and to empower communities to actively shape the future of clinical research. My journey in helping to develop the LGBTQ+ brochure for CISCRP has been an experience of profound learning, empathy, and hope, and one that reinforces the fact that progress is made through collaboration, compassion, and a relentless pursuit of equality.

This is an endeavor to celebrate, though we must remember that the path ahead is still quite long. I have every confidence that the CISCRP team’s dedication in ensuring every voice is heard, every story is valued, and every individual is embraced within the scientific arena will be resolute. I commend them on, and deeply appreciate, their quest for engaged representation and inclusivity in clinical trials for all. It is a true honor to work with this team and contribute to their meaningful efforts as THE leader in patient engagement, clinical research education, and clinical trial research and participation.

Heather C. Guidone, BCPA, Surgical Program Director  
The Center for Endometriosis Care

Medical Hero Spotlight: Brittany Foster, Pulmonary Hypertension Patient Advocate

Living with Pulmonary Hypertension

Brittany Foster may not appear to be struggling with a chronic condition upon first impression, however, she has been navigating a series of complex medical diagnoses for decades. At birth, doctors discovered Britt had a blockage in her intestines. She was rushed into emergency surgery, where it was quickly discovered she had also been born with a heart defect when she went into sudden cardiac arrest. At less than a year old, Britt was taking medication for heart failure and had a procedure to repair the hole in the bottom of her heart, called a ventricular septal defect. Soon after, she was diagnosed with pulmonary hypertension, a condition that forces her heart to work overtime to pump blood to her lungs.

Despite this diagnosis early on, Britt enjoyed a relatively normal childhood. She was very active, participating in nearly every sport with no issues. For years, the only evidence of her condition were the scars from her surgery as an infant.

Unfortunately, around the age of thirteen, Britt found herself struggling with shortness of breath while playing sports. Her cardiologist recommended she take a pulmonary function test, believing the symptom to be exercise-induced asthma. She was given inhalers and continued with daily life but soon found the inhalers weren’t fully effective.

“At that age, all I wanted to do was what my friends were doing. I loved playing sports, so I kept at it, despite my continued breathing difficulties,” Britt says.

Upon graduation, Britt began a career path in education as a teacher, a role that exemplified her passion for advocacy and helping others. “I wanted to advocate for the students who need resources, or who in some cases, did not have the ability to speak up for themselves,” Britt says. Four years into her career, Britt was managing an eighth-grade classroom when her condition began to impact her daily life again. “Many people don’t realize what a physically demanding job teaching is,” Britt reflects. “I was on my feet all day walking around the classroom and bending and crouching very often. One day I got incredibly lightheaded and ended up passing out in the classroom.”

Changing Directions: From Teaching to Rare Disease Advocacy
“Unfortunately, a big part of my story has been repeated mistreatment from medical professionals. As a young woman who physically appeared to be in good health, assumptions were made about me by doctors who weren’t interested in my prior history or symptoms,” Britt says.

After being rushed to the ER from her classroom, Britt’s doctors concluded she fainted due to dehydration despite her history of heart disease. They planned to send her home to rest with fluids, but Britt knew something else was wrong.

“I was lucky that right before being discharged, a nurse started asking more probing questions about what I had been doing right before fainting. We decided I should walk down the hallway with a heart monitor and oxygen sensor to evaluate,” Britt recalls. Within minutes, Britt’s oxygen levels had dropped rapidly, and doctors finally decided to admit her into the cardiac unit for further treatment.

Britt was released later from the hospital with an oxygen tank to assist her breathing and was told to adapt her life around her pulmonary hypertension. “I was only twenty-six years old,” Britt says. “The tanks were huge and difficult to get around with. I wasn’t given any resources on how to adapt my life, but I knew I wanted to get back into my classroom and start teaching again.”

Britt went back to teaching for several months and finished the school year but struggled with her oxygen tank throughout. Over the summer, she met with her doctors who strongly advised her to change career paths. Britt made the hardest decision of her life to retire from teaching. “I felt incredibly discouraged and depressed watching other teachers move on with a new school year, while I was sick in bed,” Britt recalls.

Finding Community & Support

During this time, Britt struggled with depression and anxiety. She turned to writing as an outlet, sharing her experience on social media, and eventually going on to write for a nonprofit organization that promotes mental health awareness. Soon after, she was hired as a columnist for BioNews to write about pulmonary hypertension. “From there I was able to start connecting with other patients, caregivers, and medical professionals, which helped build the sense of community and purpose that I had been missing,” Britt says.


In the years since, Britt most recently worked on the People & Culture team, a position that she loved. “I am grateful that BioNews truly values employees’ health and makes sure to accommodate our needs.”


Throughout her medical journey, Britt says her friends and family have been her biggest supporters. She encourages others with rare diseases to not be afraid to speak up about their experiences.

Continued Medical Treatement

Since her initial diagnosis, Britt has continued to undergo medical treatment, as doctors began to better understand her condition. At age twenty-nine, it was discovered the Britt was born with an anatomically misplaced aorta, in addition to the hole in her heart.

“My aorta branches off to the right, so all my arteries are opposite. I was in the hospital, sick and unable to keep food down. Doctors were trying to diagnose me with bulimia, until a GI specialist stepped in and found that because of my aorta, my arteries had formed a tight branch around my esophagus, making it painful to eat or drink,” Britt says.

Because of the long-term compression on her trachea and esophagus, Britt needed surgery to repair the damage. Unfortunately, this condition has caused permanent nerve damage, gastroparesis, and esophageal dysphasia. Since her surgery, Britt has become feeding-tube dependent to ensure she has adequate nutrition.

Advice for Patients

As someone who has navigated the healthcare system with a rare condition, Britt has learned valuable lessons along the way that she shares with others whenever she can.

Find a medical professional you can trust to advocate for your care.

“Rebuilding trust in medical professionals has been a challenge for me, but finding trusted doctors I can rely on has been a big help. I have an excellent relationship with my primary physician who leads my care and truly advocates for me,” Britt says.

Create a medical overview binder to share in emergencies and with new doctors.

Emergency rooms are fast paced and fast moving. When admitted, you may end up speaking with multiple doctors who haven’t spoken directly with each other about your condition. Britt recommends having one provider you trust assist you in building a document that includes all your medical diagnoses with explanations, any medications, or treatments you are currently taking, and the contact information and signature of that doctor. “I bring this folder any time I have to visit the ER and have the file stored on my phone to show staff as well,” Britt says. These documents can be helpful for treatment so that new doctors are aware of your baseline levels and other conditions.

Surround yourself with people who understand your condition and who support you.

“My medical condition has made my life and daily routine very inconsistent,” Britt says. “I never know when something will come up and I’ll need to cancel plans. Socializing takes a lot more planning now, which can be difficult.” If someone in your life is living with a chronic condition or a rare disease, Britt recommends becoming educated about their condition and learning to adjust expectations when it comes to socializing and other daily commitments.

Trust the timing of your life.

“Six years ago, I thought I had no future and I had lost a career I was passionate about because of my rare disease. Today, I have a supportive community of people who understand my experience and for that I am grateful.”

Additional Resources:

https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-hypertension

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Katie Hill, Appendix Cancer Clinical Trial Participant

Diagnosed with Appendix Cancer

Like most patients diagnosed with appendix cancer, Katie Hill had no idea her body was battling a deadly disease. Her diagnosis story began in 2021, when she made the decision to undergo a partial hysterectomy after struggling for years with pain caused by fibroids. At the hospital, her care team provided her with consent forms to read through and sign off on before the procedure. These forms gave her doctors permission to make other decisions as medically necessary if needed, a standard practice during surgeries.

“Because of COVID-19, I went in for the procedure by myself, and when I woke up in my recovery room, my surgeon let me know that there was an unexpected discovery they had made while I was under,” Katie recalls.
Her doctors had noticed an unusual spot on her appendix and decided to remove it just to be safe. Katie was informed that the team had also found some excess tissue near the appendix and abdomen, which they thought might be from endometriosis. With her appendix and tissue sent to the pathology department for testing, Katie was released from the hospital to recover at home.

Two days later, Katie noticed an email from her patient portal about her test results.

“Assuming it was nothing, I opened the email and started reading the pathology report from testing my appendix and tissue,” Katie says. “It was from that email that I learned I had Stage 4 metastatic mucinous adenocarcinoma of the appendix.”
“I remember sitting in my living room in complete shock. I didn’t know what else to do but to start Googling my cancer. It felt like a lifetime, but it was only about 5 minutes of reading before my surgeon called, interrupting my research. I could tell immediately by his voice that there hadn’t been a mistake, that this was real. Before he could say anything, I cut him off and said, ‘I know.’”

That afternoon, her surgeon had been desperately trying to prevent the hospital’s patient portal system from releasing the pathology report to Katie so that she would not learn of her diagnosis in such a clinical and shocking way. On their phone call, Katie learned a team at the hospital had been in discussions all day about her rare cancer and were researching treatment options for her.

Finding a Treatment Plan

Some patients might pull back from researching their cancer, but Katie jokes that research has always been a part of her DNA. “I needed to understand everything I could about my cancer.” 

She started by finding online resources and support, through groups like the Appendix Cancer Pseudomyxoma Peritonei Research Foundation (ACPMP), and patient support groups on Facebook. On patient forums, Katie quickly learned that it is critical for appendix cancer patients to select a specialist at a high-volume cancer center, or someone who has treated hundreds of patients with this disease.

“It used to be said that the chances of getting appendix cancer was 1 in a million. Now it’s about 2.5 in a million, so there are still not many doctors who have a lot of experience treating it,” Katie shares.

Katie spent the next week going to consultations in her home state of Pennsylvania and traveling to several appointments in New York. Within 2 weeks, she had selected her cancer specialist at Memorial Sloane Kettering.

“Part of my selection process for a specialist included finding a high-volume cancer center. I wanted a surgeon who has seen at least 100 or more cases of this a year, and I was also interested in finding a cancer center that had clinical trials available,” Katie explains. “If I have a rare cancer and have the opportunity to participate in studies that further care for other patients, I feel a duty to help.” 

Katie began treatment with chemotherapy to shrink her tumors. Her next step involved a procedure called cytoreductive surgery (CRS), which involves scraping the cancer off and, in some instances, removing organs. 

“My cancer is unique because it’s not a solid tumor, which is how most people visualize cancer. My cancer is like a jelly that spreads out across my insides, making it hard to detect on scans and then to remove.”

Joining a Clinical Trial

For Katie, clinical trial participation was a major consideration in her treatment plan, and she was fortunate to qualify for the ICARuS study. “It’s standard practice for most surgeons to use a heated chemotherapy agent as a wash to kill cancer cells. The ICARuS study is a randomized trial comparing two different methods of administering chemotherapy,” Katie explains. The purpose of the trial is to determine if outcomes for patients are different when using different types of chemotherapy.

As a rare disease patient, Katie has also had the opportunity to enroll in an observational study, called the Genetics of Appendix Cancer, or GAP study. “Right now, many appendix cancer patients use the same treatments as colon cancer patients because there is very little awareness or funding for research for this disease,” Katie explains.

“Many surgeons who run into this disease have never seen it outside of medical textbooks and oftentimes will misdiagnose or begin treatment, which could be detrimental to patients. They assume they’re doing good, but don’t realize that this is a different disease that needs to be treated differently.”

Appendix cancer was previously not considered curable, but we now know that some patients are making it for long periods of time with no evidence of disease (NED). Katie is currently 18 months NED! She hopes to be one of the patients who goes for a long time with NED but shares that she will be happy to get a couple of years without recurrence. “Our industry is moving so quickly that there will be new treatment options waiting for me down the line, which I am thankful for.”

Katie the day she arrived home after surgery, completing her treatment journey.

A Career Rooted in Life Science Collaboration

Katie has spent the last 20 years of her career working in different roles at the Drug Information Association (DIA), an organization dedicated to improving outcomes for patients through industry collaboration. Most recently, as Senior Vice President and Managing Director of Learning and Digital Solutions, Katie oversaw the development of DIA’s Patient Engagement eLearning Program, which helps to train professionals on best practices for integrating the patient perspective into the full medicines lifecycle. 

Unlike others fighting cancer, Katie wasn’t hesitant about sharing her diagnosis with her colleagues who were all incredibly supportive during her treatment. “My diagnosis was just another affirmation that the work we do at DIA is important. My colleagues and I come to work every day because of patients like me living with diseases, waiting for breakthrough treatments,” Katie shares.

For others navigating a difficult diagnosis for themselves or a loved one, Katie emphasizes that there is no ‘right’ way to move through your medical journey. “Everyone has different experiences and setbacks when dealing with a disease. I tried to maintain a positive attitude throughout my treatment, but that might not work for everyone,” Katie explains.

To newly diagnosed patients, Katie compares their upcoming medical journey to riding a rollercoaster.

“Everyone who has been on a rollercoaster knows that the scariest part is the slow climb to the top. In healthcare, most patients experience this immediately after their diagnosis, when there is so much uncertainty, fear, and often waiting. Once you’ve established a plan and found your care team, your treatment begins, and things really speed up. I know that for me, it was scary, but I felt secure knowing I had a top-notch medical team by my side and that I was making progress,” Katie says.

Additional Resources:

https://acpmp.org/ 

View an overview of the ICARuS study here.

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org