Retinitis pigmentosa is a group of inherited eye diseases that damage the light-sensing cells in the retina. It affects roughly 1 in 4,000 people worldwide. Until recently, no treatments existed; now one gene therapy is FDA-approved for a specific genetic form, and dozens of trials are testing gene therapies, stem cells, and devices that bypass damaged cells.
What's actually going on in research
Trials are testing gene therapies for specific mutations, stem cell transplants to replace dying photoreceptors, retinal implants that send visual signals directly to the brain, and drugs that slow cell death. Researchers are also studying CRISPR gene editing to correct mutations in the eye, and optogenetic therapies that make surviving retinal cells light-sensitive again.
Gene therapies
Multiple gene therapies are in trials, each targeting specific mutations that cause retinitis pigmentosa. Luxturna, approved in 2017 for RPE65 mutations, proved gene therapy can work in the eye and opened the path for others.
Optogenetics
These therapies insert light-sensing proteins into surviving retinal cells, turning them into substitute photoreceptors. Early trials show some people regain basic visual function like detecting movement and shapes.
CRISPR editing
Trials are testing whether CRISPR can directly edit mutations in the eye to stop vision loss. The eye's small size and immune privilege make it an ideal testing ground for gene editing.
What to know before you search
Eligibility usually depends on genetic mutation type, amount of remaining vision, disease stage, and sometimes age at onset.
What types of trials are currently open
- Gene therapy trials — Testing treatments that deliver working copies of specific mutated genes into retinal cells. Each trial usually targets one genetic form of retinitis pigmentosa.
- Stem cell trials — Transplanting lab-grown retinal cells to replace damaged photoreceptors. Trials test whether new cells survive, integrate, and restore vision.
- Optogenetic trials — Adding light-sensing proteins to surviving retinal cells so they can detect light even after photoreceptors die.
- Device trials — Testing retinal implants and vision prosthetics that bypass damaged cells and send visual signals directly to the brain or remaining retinal tissue.
- Drug trials — Testing medications that slow photoreceptor death, reduce inflammation, or protect remaining vision.
Recently added Retinitis Pigmentosa trials
Receive a gene therapy injection into the eye for inherited vision loss
This open-label, multi-center study is to evaluate the safety, tolerability, and efficacy of escalating doses of a gene therapy called SPVN20 administered via a single intravitreal injection in participants with advanced Rod-Cone Dystrophy.
Take a new obesity medication for rare genetic conditions
Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity. Setmelanotide, an MC4R agonist, is approved in Europe for selected genetic obesity disorders and reimbursed in Germany for eligible patients. This study aims to evaluate the effectiveness, safety, treatment persistence, metabolic outcomes, and patient-reported outcomes of Setmelanotide under real-world conditions. The registry is designed to allow future inclusion of additional MC4R agonists as they become approved and clinically available. The study will primarily be conducted at University Hospital Essen and will collect longitudinal routine clinical data from pediatric and adult patients receiving MC4R agonist therapy according to approved indications.
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