Retinitis pigmentosa (RP) is a group of inherited retinal diseases caused by mutations in more than 70 different genes, leading to progressive degeneration of photoreceptor cells and eventual severe vision loss or blindness. It typically begins with difficulty seeing in dim light and loss of peripheral vision, eventually narrowing to tunnel vision and sometimes complete blindness.
What's actually going on in research
Gene therapy has produced a historic approval — voretigene neparvovec for RPE65-mutation RP — and dozens of other gene-specific trials are underway for different causative mutations. Optogenetic therapies that restore light sensitivity to surviving non-photoreceptor cells have shown early success in patients with very advanced disease. Neuroprotective approaches, retinal prosthetics, and cell therapy with retinal pigment epithelium transplants are also active research areas.
Gene-specific therapy
Following the approval of voretigene for RPE65-mutation RP, trials are now underway for RPGR, CNGB3, CNGA3, and other causative genes using adeno-associated virus vectors tailored to each mutation.
Optogenetic vision restoration
Optogenetic therapy uses a viral vector to deliver light-sensing proteins to surviving retinal ganglion cells, partially restoring vision in patients who have lost nearly all photoreceptors regardless of the underlying mutation.
Neuroprotective approaches
CNTF, rod-derived cone viability factor, and other neuroprotective agents are in trials aiming to slow photoreceptor death and preserve remaining vision across different genetic forms of RP.
What to know before you search
Eligibility depends on the specific causative mutation, remaining visual acuity and visual field, and in gene therapy trials, availability of a suitable vector for that gene.
What types of trials are currently open
- Gene therapy trials — Testing mutation-specific gene replacement or suppression for different causative RP mutations.
- Optogenetic trials — Evaluating viral delivery of light-sensing proteins to restore partial vision in advanced RP.
- Neuroprotective trials — Testing drugs and growth factors that slow photoreceptor degeneration across genetic subtypes.
- Cell therapy trials — Studying retinal pigment epithelium and photoreceptor cell transplantation for advanced disease.
- Retinal prosthetic trials — Evaluating electronic devices that interface with surviving retinal neurons to restore functional vision.
Recently added Retinitis Pigmentosa trials
Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
Retinitis pigmentosa and similar degenerative diseases of the retina lead to progressive loss of vision. TES therapy with the CE-marked OkuStim® System is a treatment approved in the EU for slowing the progression of the disease. Patients increasingly report short-term subjective improvements in vision, which have not yet been systematically investigated. This exploratory study is conducted to determine whether these subjective short-term effects can be measured, and therefore also be quantified, by objective tests.
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision. The mission of the VRAI is to enable the highest quality, standardized efficacy testing of patients with visual impairment. The VRAI facilitates the development and refinement of existing endpoints specifically for testing patients with Low Vision.
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