In short
Currently, there are 2 clinical trials investigating new treatments for Usher's syndrome, a genetic disorder affecting both hearing and vision. These trials are testing gene therapy approaches aimed at addressing the underlying genetic causes of the condition, particularly focusing on Type 1B. The trials are taking place in Italy and France.
Clinical trial locations
- France
- Italy
Study of AAVB-081 and Prednisolone for Patients with Usher Syndrome Type 1B Retinitis Pigmentosa
This trial is investigating a gene therapy called AAVB-081 for people with Usher Syndrome Type 1B, a genetic condition that causes both severe hearing loss from birth and progressive vision loss due to retinitis pigmentosa. The treatment uses a specially designed virus to deliver a healthy copy of the MYO7A gene directly to the retina, the light-sensitive layer at the back of the eye.
Who can participate: Adults between 18 and 50 years old with a confirmed genetic diagnosis of Usher Syndrome Type 1B caused by mutations in the MYO7A gene. Participants must be willing to follow the study procedures and sign an informed consent form.
Who cannot participate: People who do not have Usher Syndrome Type 1B with retinitis pigmentosa, those younger than 3 years old, pregnant or breastfeeding women, and individuals with allergies to the study medication or certain eye conditions that could interfere with the treatment.
What the trial involves: The study evaluates the safety and tolerability of AAVB-081 when injected under the retina. Participants will also receive prednisone, an oral medication. Throughout the study, participants undergo regular health checks including eye exams, blood tests, and vision assessments to monitor their response to treatment and any side effects. The goal is to find the best dose that balances benefits and risks, and to determine if this gene therapy can help improve or stabilize vision. The study is expected to conclude by May 2030.
Investigational drug: AAVB-081 is administered through a subretinal injection using an AAV8 viral vector to deliver the healthy MYO7A gene. The treatment aims to correct the underlying genetic cause of vision loss in this condition.
Study on Long-Term Safety and Effects of SAR421869 for Patients with Usher Syndrome Type 1B
This is a long-term follow-up study examining the safety and effects of SAR421869, another gene therapy approach for Usher syndrome Type 1B. The treatment involves a subretinal injection containing a human gene designed to address the genetic cause of the condition.
Who can participate: This study is only open to patients who previously enrolled in an earlier trial (protocol TDU13600) and received a subretinal injection of SAR421869. Participants must provide written informed consent and any required local authorization, such as HIPAA compliance. Both males and females can participate, including those from vulnerable populations.
Who cannot participate: People who do not have Usher's syndrome Type 1B, those who were not part of the previous trial, or those who do not fall within the specified age range for the study.
What the trial involves: The study focuses on monitoring the long-term safety and tolerability of SAR421869. Participants undergo regular assessments to evaluate any adverse events, changes in eye health and safety, and potential delays in retinal degeneration. The primary goal is to understand how well patients can tolerate the medication over an extended period and to observe its biological effects. The study is expected to continue until June 2031.
Investigational drug: SAR421869 is delivered as a suspension for injection, targeting specific pathways involved in the disease process. The exact mechanism is still being studied in these clinical trials.
Summary
Both ongoing trials for Usher's syndrome focus specifically on Type 1B, using gene therapy approaches to address the underlying genetic causes of the condition. These studies represent different stages of clinical research: one is evaluating an initial treatment approach with AAVB-081 in Italy, while the other is a long-term follow-up study of SAR421869 in France for patients who previously received the treatment. Both trials use subretinal injections to deliver gene therapies directly to the eye, aiming to improve or stabilize vision by correcting genetic defects. The trials reflect the growing focus on gene therapy as a potential treatment strategy for rare genetic disorders affecting vision. Each study emphasizes careful monitoring of safety and tolerability, with follow-up periods extending several years to assess long-term effects.
