Help science advance: Share your inherited retinal disease (IRD) journey with the research community

Growing participation in My Retina Tracker, the patient registry from the Foundation Fighting Blindness, helps to expand the scientific community’s understanding of inherited retinal disease (IRD).

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The Foundation Fighting Blindness (FFB) launched its free patient registry, My Retina Tracker®, in 2015. The registry invites people and families affected by inherited retinal disease (IRD) to share information about diagnosis and the impacts of living with vision loss. Since launch, the database has grown substantially and become a significant tool for companies and researchers studying IRDs. All of the information shared with My Retina Tracker is anonymous, but the collective data helps researchers accelerate the discovery of potential treatments.

Ben Shaberman, senior director of communications at FFB, says the term “patient registry” may be new to some people. “I think there’s sort of an ambiguity for people about a patient registry. What does that really mean?” To help answer that question, Shaberman put us in touch with Brian Mansfield, Ph.D., the senior vice president for research at FFB. He told us how the registry works, the way participation advances research, and the details about a free genetic test offered to those who register with My Retina Tracker.

Q: How would you explain a patient registry like My Retina Tracker to someone?

A patient registry allows people to share information about the disease they have and to do it in a way in which the information is de-identified. We will be able to see an individual’s disease profile, but we won’t actually know which individual it is or be able to find them using the information they share.  

Q: How does it work?

When you first join, you will go through an informed consent process where we tell you how we’re going to handle your information, and we outline the privacy and protections that we have in place. You then create a profile. Patients control their own data and can go in to add, delete, or modify information at any time.

We guide members using a very structured set of question surveys, and we collect information in two ways. We collect it from the patient themselves, who are living the experience and can give us a very subjective, patient-oriented reflection on what the disease means to them—how it affects their daily life and their vision and their activities. Then, we encourage them—when they go to a clinician—to ask the clinician to enter the objective clinical data that may be measured during a regular clinical exam. For instance, the most obvious thing that's measured is best corrected visual acuity.

And so, what we build up over time is how one patient feels subjectively about their disease and how a clinician is objectively measuring it. If they keep engaging with us, over time we get to understand how the disease progresses for each individual person in the registry.

“These diseases are rare and there’s not much human data on them. By registering with My Retina Tracker, you’re standing up and being counted.”

Q: Why would someone want to share their disease information with My Retina Tracker?

These diseases are rare and there’s not much human data on them. By registering with My Retina Tracker, you’re standing up and being counted. You’re making sure drug developers, doctors, and researchers know that, “Hey! I’m out here and I’m ready to participate in a trial or a study and be part of the research.” 

People have a lot to contribute. They may not be scientists, but they sure live with their disease every day of their life and they understand what we don’t. That’s really important and can make a significant contribution to understanding their particular disease—and it might help in the development of treatments and cures.  

Q: How does a patient registry help researchers working on potential treatments?

When researchers are developing medical therapies, they need to understand where the populations are that they want to treat. How do they reach them? What are the characteristics of the individual diseases?

And if it’s a gene technology or a gene-specific technology [they’re researching], they’re going to want to know not just how many patients we have in the registry with a particular disease—let’s say RP [retinitis pigmentosa]—they’re also going to want to know how many registered patients have RP with a particular gene. And if the technology is actually a mutation-specific technology, they’ll even want to know a patient’s mutation number.

For researchers, My Retina Tracker is a single place to be able to gain access to a lot of patients quickly. When a company says, “I want someone who has visual acuity of this or worse, and who is in this age range, and has this gene and this mutation,” we can look it up and say, “Yes, we have five of those people in our database at the moment.” 

Q: If someone is a good match for a clinical trial, but their information is de-identified within My Retina Tracker, then how do researchers get in contact with them?

A company will say, “We'd like to do a focus study or a clinical trial.” We ask them to go to their Institutional Review Board (IRB) and write a letter that the IRB approves—explaining why they'd like to talk to our patients. It typically says, “We're at Company X. We're developing this technology. We're interested in people with this disease. We're thinking of looking for eligibility in a clinical trial. If you would like to contact us, this is how you get in touch with us.”

We then take the list of people that they're interested in—and they'll just be identified by anonymous identifiers, like 1135 or 1289—and we'll identify those people and send them an email with the IRB-approved letter inside. We basically say that we don't endorse this study, but here is a group who would like to be in touch with you. Talk to your clinician about this opportunity if you'd like to, and if you want to get involved with this group or learn more, the contact information is provided. If you don't want to get involved, don't do anything because we don't give your information to anyone, so no one knows how to contact you. The net result is that the decision whether to engage or not is left purely in the hands of the member of the registry. And when they do engage, we at the Foundation Fighting Blindness won’t know about it.

Q: My Retina Tracker currently offers participation in a free genetic testing study to registry participants, which has been a huge benefit to this community. What are the eligibility requirements to qualify for the free test study?

As soon as you sign up into My Retina Tracker, you become eligible for the study. We encourage you to go to your own clinician, and if they aren’t already registered for the study, we have a letter that you can share with them. The letter explains who we are, what the study is, and how the clinician can join the study and order a free test for their patient.

This is not just a straight test requisition form the clinician sends off. The patient’s clinician has to add the patient’s diagnosis and best corrected visual acuity into the My Retina Tracker profile and order from a specific diagnostic testing company. Clinicians typically need to go through an onboarding process to get them up to speed on what’s involved and how to do it.

Q: What kind of a genetic test is it?

We’re actually offering the most comprehensive test panel that we can. It currently consists of 266 genes, which are all of the genes that we’re aware of at the moment that cause inherited retinal diseases. This test is the best shot at understanding the gene and the mutation causing your disease.

Q: If someone registers in My Retina Tracker and would like to be tested, who should their clinician contact?

Write to: coordinator@MyRetinaTracker.com

Q: At the end of the day, what should the IRD community remember about My Retina Tracker?

That sharing what you know about your disease—something that nobody else knows—is tremendously important. Everyone is individual, and scientists and clinicians only know a disease from looking on the outside. Patients have incredibly valuable insights and information to share.

 

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