How to Join a Retinitis Pigmentosa Clinical Trial

Joining a clinical trial for retinitis pigmentosa (RP) involves finding research studies that match your specific type of RP and undergoing a screening process to see if you qualify. Because emerging treatments like gene therapies and CRISPR are highly targeted, you cannot simply sign up for a trial; you must first gather specific medical information and connect with specialized researchers. The process generally requires confirming your exact genetic mutation, joining patient registries, working with a specialist, and actively searching for recruiting studies.

It is important to remember that participating in a clinical trial is a significant commitment. Early-phase trials primarily test safety rather than guaranteeing vision restoration, you may have a chance of receiving a placebo instead of the active treatment, and participation often requires frequent clinical visits.

Step 1: Get a Confirmed Genetic Diagnosis

The most critical step in joining an RP clinical trial is getting a confirmed genetic diagnosis. Retinitis pigmentosa is not a single condition; it can be caused by mutations in over 100 different genes. Because many new therapies are designed to fix or replace a specific mutated gene, clinical trials almost always require you to know exactly which gene is causing your vision loss ^[1][2].

For example, the recent BRILLIANCE trial testing a CRISPR gene-editing therapy was only open to patients with a specific mutation in the CEP290 gene, which causes a related inherited retinal disease called Leber congenital amaurosis ^[3]. Because of the high genetic variability in RP, precision medicine approaches require matching the right patient to the right trial ^[4][5].

If you have not had comprehensive genetic testing (often called a genetic panel or next-generation sequencing), this is your first step. Work with a genetic counselor to help you understand your results. If cost is a barrier, organizations like the Foundation Fighting Blindness often sponsor free genetic testing programs.

Step 2: Register with the My Retina Tracker Registry

Once you have your genetic results, you should upload them to the My Retina Tracker Registry (available at fightingblindness.org). Managed by the Foundation Fighting Blindness, this free, secure database connects people with inherited retinal diseases to researchers and clinical trial sponsors.

Instead of you constantly searching for trials, registering allows trial organizers to find you. When a new study opens for your specific gene mutation, researchers can use the registry to identify and contact eligible patients. It is one of the most effective passive strategies for finding a trial.

Step 3: Consult an Inherited Retinal Disease (IRD) Specialist

Most standard eye doctors (optometrists and general ophthalmologists) do not conduct gene therapy clinical trials. To participate in advanced research, you need to establish care with an Inherited Retinal Disease (IRD) specialist, typically located at a major academic medical center or specialized eye institute.

An IRD specialist will perform advanced testing—such as electroretinograms (ERG) and specialized retinal imaging—to map the exact structure and function of your retina ^[6]. Clinical trials have strict vision requirements. For instance, gene-replacement therapies often require you to have enough living retinal cells left to benefit from the treatment. However, do not lose hope if your vision loss is advanced: other emerging treatments, such as optogenetics, are specifically being developed for later stages of the disease when light-sensing photoreceptor cells have already died. Your IRD specialist can determine which type of trial is best for your current stage and can serve as a direct referral source to the researchers.

Step 4: Search ClinicalTrials.gov

While the registry works in the background, you can actively look for studies on ClinicalTrials.gov, a database of privately and publicly funded clinical studies. If the website is difficult to navigate due to dense text or low contrast, consider using a screen reader, asking a family member for assistance, or reaching out to a patient navigator through a blindness nonprofit.

When searching the site:

• Use specific terms: Do not just search for “retinitis pigmentosa.” Add your specific gene (e.g., “RHO”, “USH2A”) or the type of therapy you are interested in (e.g., “CRISPR”, “optogenetics”).
• Look for “Recruiting” status: Filter your search to only show trials that are actively “Recruiting” or “Not yet recruiting.”
• Do not automatically filter out distant locations: While participation requires travel, many rare disease clinical trials provide travel stipends, flights, and hotel accommodations for you and a companion.
• Print and discuss: Print out the summary pages of any interesting trials and bring them to your next IRD specialist appointment.

If you find a trial that looks like a match, you or your IRD specialist can contact the study coordinator listed on the website to ask about the screening process.