Medical Hero Story: Richie Kahn & Wolfram-like Syndrome

Richie explains that “Glaucoma is a disease of the eye characterized by a build-up of fluid which causes increased pressure on the optic nerves connecting the eye to the brain. I decided this was an opportunity to turn lemons into lemonade, to build awareness of clinical research as a care option, and to get people screened for symptom-free vision loss.”

He used his skills and experience in business development in clinical research to conduct outreach to non-profits, particularly the Glaucoma Research Foundation, to ask how he could help. “If I have the opportunity to combine my knowledge of research and my passion for patient advocacy, put me in coach, I’m ready,” Richie says.

At an industry conference in the autumn of 2019, Richie met a key opinion leader (KOL) in the glaucoma field, who invited Richie to meet with him to review his case. This was the third medical opinion Richie had sought. Richie’s care team had performed the necessary screenings and followed treatment guidelines for glaucoma.

In that appointment, Richie received disturbing news.

“With relatively few signs and symptoms, I had lost about 15% of my vision,” says Richie. “That was the first indicator that what I had was not, maybe, so clear-cut.”

Richie’s optic nerve was pale, and the doctor was concerned. Tests were conducted to determine whether Richie had suffered a series of small strokes or had a tumor. Just after Thanksgiving in 2019, the test results came back negative. The KOL recommended that Richie confer with a neuro-ophthalmologist that was in the same building. After a lengthy appointment that didn’t provide any further insight, the neuro-ophthalmologist recommended genetic testing.

In late February of 2020, just before the global pandemic began shutting down the US, Richie received more unsettling news, via a phone call with the neuro-ophthalmologist.

“I could hear from the tone in this doctor’s voice, he was not familiar with the diagnosis he was sharing,” says Richie. The doctor told Richie that the genetic tests indicated that he had Wolfram Syndrome, and that he should meet with a genetic counselor. Richie asked for his test results and he started researching the disease on his own.

NORD (National Organization for Rare Disorders) describes Wolfram Syndrome, in part, as “…an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. The symptoms and rate of progression of Wolfram Syndrome can be quite variable. Neurological symptoms such as poor smell, poor balance, an awkward, unbalanced way of walking (ataxia) and central sleep apnea can occur.” It also impacts the brain stem and affiliated critical bodily functions, including breathing. (Source: https://rarediseases.org/rare-diseases/wolfram-syndrome/)

“I used to go to a Korean Buddhist temple, for 15 years. So I am very much ‘It is what it is.’ You know, having good vision is temporary. Being alive is temporary. I was very matter of fact about it,” says Richie.

Richie decided to contact the KOL on Wolfram Syndrome, Dr. Fumihiko Urano, MD, PhD, of the Washington University School of Medicine in St. Louis, Missouri,  and received a response. A meeting was scheduled with Richie, his wife, Dr. Urano and the clinical research nurse. Dr. Urano determined that Richie did not have Wolfram Syndrome but had Wolfram-like Syndrome.

“And I said, what is that?” says Richie.

Wolfram-like Syndrome is a rare disease, a disorder of the endoplasmic stress reticulum. It typically manifests between the ages of 6 and 8 years old, with optic atrophy that is often slow progressing. Later, many individuals develop insulin dependent diabetes. Sensory and other hearing loss may also occur.

“My particular flavor of the disorder, I was told by Dr. Urano, was only discovered by science in 2019,” says Richie. “I am patient number 17.”

The other 16 individuals presented symptom onset more typical of Wolfram-like Syndrome.

“Here I am, a unique and special snowflake, just like everybody else with a rare disease, right?” smiles Richie. “We have no way of knowing what the progression will be like. Eight or nine months after chatting with Fumi (Dr. Urano) for the first time, I had lost 15% of my vision. Today,  I have lost almost 50%. So we’re preparing for legal blindness, I mean, I could be there right now. It depends on the test you take. But again, I am using this as an opportunity to focus on incorporating the patient perspective into clinical trial designs, creating studies that are less burdensome and building awareness of the whole thing.”

Wolfram-like Syndrome is an orphan disease, without any treatment and currently no clinical trials being conducted.  Richie has connected with Amylyx Pharmaceuticals, in Cambridge, Massachusetts, a company that has been granted Orphan Drug Designation for AMX0035 for the treatment of Wolfram Syndrome.

 “I’ve connected with the key opinion leader and looking to connect with patients — anything I can do to help make their lives easier and bring promising new therapies to them. It’s a net win,” says Richie.

Richie further explains that research indicates that up to 3% of individuals of western European Jewish heritage (Ashkenazi) may be carriers for this genetic condition.

“It makes me scratch my head,” says Richie, “because some might manifest with diabetes and no vision loss. Some might think they have glaucoma but they’re not diabetic. So I wonder how many patients might conceivably have this condition and just are not aware.”

It’s clear that Richie’s view about participation in clinical research is towards assisting others who come after him and sharing awareness about the importance and magnitude of clinical research.

“For vision loss, while there’s really fantastic work being done, through the Catalyst for a Cure program at Glaucoma Research Foundation, and there’s a lot of really promising pre-clinical work right now, once you’ve lost your eyesight, in almost every scenario, it is what it is. It’s not reversible. So I’m not necessarily looking at this (upcoming) trial to restore vision loss, or anything like that, for me. If I can contribute and help the next patient, fantastic. If I can at least build awareness about clinical research as a care option, and research even being an option in the community, that’s great. But I am not counting on my disease progression slowing or vision restoration. It’s more about building awareness of research, for both patients and clinicians, contributing to science and work in vision restoration.”

Richie’s patient advocacy efforts include public speaking engagements and work with the Glaucoma Research Foundation. “I am very clear now, about my diagnosis, in presenting myself as an optic atrophy patient and not a glaucoma patient,” says Richie. He is involved in the foundation’s patient summit steering committee and often moderates webinars and panels with the team.

Richie has high praise for the Glaucoma Research Foundation, saying “They’ve been absolutely lovely. They’ve connected me with other patients who are interested in becoming advocates, interested in writing blogs and sharing their perspective with researchers, which is fantastic. I am not only working with tremendous advocates, I have the opportunity to connect with patients and hear their stories, help them become better advocates, learn from them and just be a sounding board for them. Sometimes they’re just looking to vent. Ultimately, if they’re interested, I try to get them to be engaged and empowered to be their own advocates.”

Richie has participated in other non-vision-related clinical trials in the past, including a traditional brick and mortar clinical trial for migraine headaches. He participated in a one-day trial for involving a virtual reality headset, powered by artificial intelligence, that runs  at-home visual field exams. He also tried, unsuccessfully, to participate in the recent COVID-19 vaccine studies, but did not receive calls back, most likely due to clinical site bandwidth.

When he shared with family and friends that he may participate in an upcoming clinical trial for Wolfram-like Syndrome, he did face some confusion from his loved ones. “A question I have heard is, ‘If you’re not going to restore your eyesight, then why would you participate?’ I try to use it as opportunity to educate, that everyone’s rationale and motivation to participate is different,” Richie explains.

Richie advises individuals considering clinical research that “If you’ve got questions about a clinical trial, reach out to the study site to get your questions answered. If you’re really curious, go through the pre-screening process. Go through screening. If you qualify, go through informed consent. Learn as much as you can, to make sure that, if you are going to participate, your expectations are clear. There’s nothing worse than either a patient or a doctor getting involved in clinical research and not having a clear understanding of what the study involves. And then share your experiences with your friends, family and community members.”

Richie also makes note of a very basic, but profound fact about clinical research. “This is a full-contact, team sport. Every time you go the pharmacy and look at the products being dispensed by the pharmacists remember they wouldn’t be there without clinical trial participants.” You can see this sentiment in action in CISCRP’s MT Pharmacy video.

In June of 2021, Richie participated as a panelist in the CISCRP webinar titled “Rare Disease Clinical Trials: How to Prepare for When the Clinical Trial Ends”, where he shared his experience as a rare disease patient, patient advocate and clinical research professional. You can access the recording here.

Richie is very hopeful about the evolving state of the clinical research enterprise. “If there is a silver lining in the pandemic as it relates to clinical research, I think we’re at this inflection point where the momentum is such that we are moving towards decentralized trials, hybrid trials, where patients can participate, not necessarily 100% on their own terms, but from where they are situated and when they are able to participate,” says Richie.

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