VISIONS 2024 Highlighted Testing and Registries for Inherited Retinal Diseases

Todd Durham, PhD, Senior Vice President of Clinical and Outcomes Research at the Foundation Fighting Blindness, shared insights from a session at VISIONS 2024 that addressed the importance of genetic testing for IRD and the impact patient registries can have on treatment discovery.

Todd Durham, PhD:

For 25 years or so, I spent my career working in drug development as a biostatistician, so I had a lot of drug development experience before I came here about 5 years ago. The Foundation Fighting Blindness is focused on doing everything we can to accelerate the path to treatments and cures for inherited retinal diseases (IRDs) and dry age-related macular degeneration (AMD). We accomplished that through our grants programs, through our fundraisers, and community engagement and education.

The areas that I’m responsible for that contribute to that mission are clinical research activities, number 1 being studies that we conduct through the Foundation Fighting Blindness Clinical Consortium, and My Retina Tracker Registry and our sponsored genetic testing program. It’s a wonderful organization. I think we’ve done a lot of good.

Question:

The Foundation Fighting Blindness recently presented at the VISIONS 2024 meeting in Chicago. What were the highlights of the meeting?

Todd Durham, PhD:

VISIONS is a meeting that we have every 2 years. This particular meeting is really targeted to members of our affected community and their family members. It’s a great opportunity for us to bring investigators and researchers to the meeting so that members of our community can hear the latest on research, but it’s also an opportunity for members of our community to establish some community, get to know each other, learn more about what’s happening in the field.

We have some great exhibitors who talk about things other than treatments and cures. They talk about ways to manage life with inherited retinal disease and dry AMD. Folks can really learn about a list of technologies, rehabilitation, things that are really important but aren’t part of the path of the treatment and the cure. It’s a wonderful meeting. It’s always great to meet members of our community. They bring a lot of life to our mission, and it’s great to meet them face-to-face.

Question:

You were part of a session titled Inherited Retinal Disease Genetics: Testing and Registries. What were the key takeaways from that session?

Todd Durham, PhD:

I was one of 3 panelists in the presentation at the VISIONS meeting. I was joined by Ramiro Maldonado, PhD, from Duke University. He’s an inherited retinal disease specialist, and Kristy Lee, MS, CGC, who’s a genetic counselor and a professor at the University of North Carolina. It was fun to serve on a panel with them, because all 3 of us are located in the Triangle area of North Carolina. That was a coincidence.

But some of the things that we talked about around this same concept and ideas around genetic testing for inherited retinal disease, from the clinical side, we talked about how things have changed for the better over the last 5 to 10 years for access to genetic testing, but also the information that genetic testing provides about the value and clarity of the genetic diagnosis.

A couple of the panelists, both Kristy and Dr. Ramiro, talked about how vital genetic testing and a genetic diagnosis is for good healthcare. Kristy talked about how important relatives can be in understanding results from genetic testing. I gave a brief overview of our program, our sponsored genetic testing program that’s available through My Retina Tracker Registry, and what we’re able to accomplish with that program. It was a great opportunity. Of course, we answered a lot of questions people have about what happens if they have uncertain results from their genetic tests and what that means for them in the future.

Question:

What is the importance of genetic testing for inherited retinal diseases?

Todd Durham, PhD:

Dr. Maldonado emphasized this point that a genetic diagnosis is really critical for making the correct clinical diagnosis. Many conditions that he sees in the clinic can look similar to each other, whether that be from age-related conditions or from inflammation. Answering what the underlying cause is really important to establish a pathway for care. That’s really essential from the clinical standpoint.

Another thing that we talked about is that a genetic diagnosis or confirmation is really critical for eligibility for clinical trials. Even if a treatment that’s being studied in a clinical trial doesn’t depend on your disease-causing gene or the variants in that gene, almost all clinical trials require confirmation. It’s actually a genetically-based disease. Getting confirmation in a diagnosis is really important.

The last piece about the importance of genetic testing is for many people that I’ve met in my time at the foundation, this is a point of emotional closure and opens up opportunities for them to advocate for themselves. It’s very much an important milestone on their pathway to finding a treatment and cure. Once they learn what’s causing their condition, now they can follow research news. Now they can ask if clinical trials are appropriate for them.

For many of them, it’s comforting to find other members of the community who have the same condition as them. I think it’s so vitally important, and we’re just so gratified by the reception of the availability of our program for patients and providers because it’s so important for them all.

Question:

Can you discuss the Foundation Fighting Blindness’ My Retina Tracker Registry? What does it offer and what impact has it had since its launch?

Todd Durham, PhD:

My Retina Tracker Registry is one way IRD patients and their providers can access genetic testing. The registry itself is a research study. It helps us learn about individuals affected by inherited retinal diseases. Registry participants complete their informed consent, they provide their contact information, and they tell us a little bit about their disease journey thus far. One of the objectives of the registry is to inform participants about relevant research opportunities.

I like to emphasize when I talk to people about this research study, we never disclose their identifying information to anyone. Instead, we send targeted email and oftentimes postal mail to the registry participants to let them know about a research study that they may be interested in.

But researchers are also interested in learning about how common certain conditions are. This is a common way that we use the registry. I can say a little bit about the impact the registry’s had. Since 2017 when we started the sponsored genetic testing program, the registry has grown a lot, and this means we’re able to offer access to genetic testing counseling to individuals with IRDs and at no cost to them. It means that these individuals now become a part of our registry, which means we’re able to be more impactful with our outreach and able to provide new research-ready participants who might be interested in all the research that’s happening in inherited retinal disease.

Today we have more than 33,000 individuals in our registry, and over 20,000 of them have been able to access genetic testing through the program. This registry has also helped speed therapeutic development by facilitating clinical trial recruitment. Just since 2020, we’ve helped support recruitment for over 35 research studies.

One last thing I’d like to mention. A couple of years ago we had a workshop specifically targeted toward individuals with PRPH2 associated retinal disease. This workshop involved over 110 patients, scientific experts, and industry professionals that established some research momentum to overcome barriers for research toward treatments of PRPH2. One of the things that was really great is many of the affected individuals who attended that workshop found out about this workshop only because we contacted them through their registration with My Retina Tracker Registry. We think this is not only vital to help enroll clinical trials, but also to bring members of the community together so they can work together and help find treatments and cures.

Question:

How can the registry assist with treatment discovery and further research in the field?

Todd Durham, PhD:

One of the points that Kristy Lee talked about in the panel was that data that come from a registry like ours with a genetic testing component, those variants are supplied to large repositories on a de-identified or anonymous basis. By looking at the specific genetic variants and looking at the disease phenotypes, that is how those diseases appear or conditions appear, you can then improve the diagnostic yield so that you can say a specific mutation is associated with this particular phenotype and you accumulate enough cases. Now you can translate new observations of those variants and say this is a disease-causing variant.

Programs like this, including ours, go directly toward, I would say, continuous quality improvement of their diagnostic yield. But also, we recently were working with an investigator who told us that de-identified data that we shared with him allowed him to formulate some plans for future targeted research studies in macular dystrophies. This is really helping investigators launch into their own research ideas.

Another area is that we recently announced a partnership with Verana Health. They manage the IRIS Registry. Because of this partnership, we’re now able to link, while preserving privacy of our registry participants, a cohort of individuals with a specific condition from our registry with all of the rich clinical data that’s managed in the IRIS Registry. This opens up a whole lot of opportunities for really understanding of long-term disease progression. Resource utilization really opens up some new opportunities that we’re really excited about.

The last thing I wanted to mention, some participants who participate in the registry might not know what is the genetic cause of their disease. That’s understandable, and it does happen. But I would like to remind them that even if we don’t have their genotype as part of their profile, they’re still contributing to research. We can promote awareness of their specific disease. It really increases the visibility of life science companies who are asking about the relative frequency and prevalence of these conditions. Those are the kinds of insights that companies are looking for as they make new research investments.