In short
There is currently 1 ongoing clinical trial for Choroidal Dystrophy, specifically focusing on long-term follow-up of gene therapy for Choroideremia and X-Linked Retinitis Pigmentosa. This trial is being conducted in France and Germany and involves monitoring patients who have previously received gene therapy treatments.
Clinical trial locations
- France
- Germany
Long-term Safety and Efficacy Study of Gene Therapy for Choroideremia and X-Linked Retinitis Pigmentosa Using AAV2-REP1 and AAV8-RPGR in Previously Treated Patients
This clinical trial is designed to monitor the long-term safety and effectiveness of gene therapy treatments for two related eye conditions: Choroideremia and X-Linked Retinitis Pigmentosa. Both are genetic disorders that cause progressive vision loss, primarily affecting males.
Main focus and goal: The study tracks patients who have already received gene therapy in previous trials to understand how well these treatments work over time and whether they remain safe. Participants undergo regular eye examinations and vision tests to measure any changes in their visual function. The trial compares outcomes between those who received treatment and those who did not, helping researchers better understand the long-term benefits and potential risks of these gene therapies. No new medication is given during this study – it is purely a follow-up to monitor the effects of previous treatments. The study is expected to conclude by December 2026.
Inclusion criteria: To participate in this trial, you must be male and willing to provide informed consent, meaning you understand the study and agree to take part. If you have Choroideremia, you must have previously participated in a study involving the AAV2-REP1 treatment. If you have X-Linked Retinitis Pigmentosa, you must have received the AAV8-RPGR treatment in an earlier study.
Exclusion criteria: You cannot participate if you have not received the specific gene therapy treatments mentioned above, or if you have not completed participation in an earlier related study. Females are not eligible for this trial, as both conditions primarily affect males. Additionally, individuals who belong to vulnerable populations requiring special protection or care are not eligible.
Investigational treatments:
- AAV2-REP1: This is a gene therapy for Choroideremia delivered through an injection into the retina. It carries a healthy copy of the gene that produces Rab Escort Protein-1, which is essential for normal retinal function. The therapy aims to slow down or prevent further vision loss by correcting the genetic defect.
- AAV8-RPGR: This gene therapy is designed for X-Linked Retinitis Pigmentosa and is also administered through a retinal injection. It delivers a healthy copy of the RPGR gene, which is crucial for maintaining healthy retinal cells. The goal is to preserve or improve vision by addressing the underlying genetic cause of the disease.
Both treatments use adeno-associated viral vectors to safely deliver the correct genetic material to the eye. During this follow-up study, participants receive regular assessments including visual acuity tests, retinal imaging, and visual field evaluations to monitor their progress.
Summary
Currently, there is one ongoing clinical trial focused on Choroidal Dystrophy and related conditions, specifically Choroideremia and X-Linked Retinitis Pigmentosa. This trial is being conducted in two European countries: France and Germany. The study represents an important long-term follow-up effort to understand how gene therapy treatments perform over extended periods.
The trial focuses on two specific gene therapy products: AAV2-REP1 for Choroideremia and AAV8-RPGR for X-Linked Retinitis Pigmentosa. Both treatments have been previously administered to participants, and this study aims to track their ongoing safety and effectiveness through comprehensive eye examinations and vision assessments.
It is notable that this trial is limited to male participants, which reflects the fact that both Choroideremia and X-Linked Retinitis Pigmentosa are genetic conditions that primarily affect males due to their inheritance patterns. The trial is expected to provide valuable data by December 2026, which may help guide future treatment approaches for these progressive vision-loss conditions.
