Gene Therapy for Leber Congenital Amaurosis
(LCA Trial)
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to test the safety of a new gene therapy for individuals with Leber congenital amaurosis (LCA), a condition causing severe vision loss. The treatment, rAAV2-CBSB-hRPE65, uses a modified virus to deliver a healthy gene into the eye, with the goal of improving vision. Participants must have LCA caused by RPE65 gene mutations and significant vision impairment. Those who meet these criteria and can undergo eye tests may find this trial suitable. Understanding the safety of this treatment could also benefit other eye conditions in the future. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this innovative therapy.
Will I have to stop taking my current medications?
The trial requires that you stop using anti-platelet agents (medications that prevent blood clots) within 7 days before receiving the study treatment. It also excludes those using immunosuppressive medications. Other medications are not specifically mentioned, so it's best to discuss your current medications with the trial team.
Is there any evidence suggesting that this treatment is likely to be safe for humans?
Research has shown that the gene therapy treatment, rAAV2-CBSB-hRPE65, has been tested in several studies and appears safe. In earlier trials with individuals who have RPE65-related eye disease, the treatment caused no serious side effects. Importantly, there were no immune reactions, indicating the body did not reject the treatment.
Studies on this gene therapy for eye disease have consistently demonstrated its safety. Some studies even reported improvements in vision, which is encouraging. While each new study enhances understanding of safety, these early results suggest that the treatment is well-tolerated in humans.12345Why do researchers think this study treatment might be promising?
Unlike the standard treatments for Leber Congenital Amaurosis, which typically focus on managing symptoms through visual aids or supportive therapies, rAAV2-CBSB-hRPE65 offers a new approach by targeting the genetic root of the condition. This treatment uses a gene therapy vector to deliver a functional copy of the RPE65 gene directly to retinal cells, addressing the underlying cause rather than just the symptoms. Researchers are excited about this treatment because it has the potential to restore vision, offering a more lasting solution compared to current options.
What evidence suggests that this gene therapy might be an effective treatment for Leber congenital amaurosis?
Research has shown that a new treatment, rAAV2-CBSB-hRPE65, may help with Leber congenital amaurosis (LCA), a serious eye condition that causes vision loss. In animal studies, this gene therapy restored sight, suggesting it might work similarly in people. Early results from patients in this trial, where all participants receive the same vector, indicate that injecting this treatment under the retina can improve vision without causing harmful immune reactions. Studies also found that these vision improvements can last for at least a year after treatment. This supports the potential of rAAV2-CBSB-hRPE65 to treat LCA caused by RPE65 gene mutations.13456
Who Is on the Research Team?
Samuel G. Jacobson, MD, PhD
Principal Investigator
University of Pennsylvania
Are You a Good Fit for This Trial?
This trial is for individuals with RPE65-associated retinal disease, which can lead to severe vision loss. It's open to adults and children (8-17 years after safety confirmation in adults). Participants must have a visible photoreceptor layer on OCT scans, be able to perform visual tests, and comply with research procedures. They should not have complicating diseases or conditions that could interfere with the study.Inclusion Criteria
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Treatment
Subretinal administration of rAAV2-CBSB-hRPE65 to individuals with RPE65-associated retinal disease
Follow-up
Participants are monitored for ocular and systemic toxicity to assess safety of the gene vector
What Are the Treatments Tested in This Trial?
Interventions
- rAAV2-CBSB-hRPE65
Find a Clinic Near You
Who Is Running the Clinical Trial?
University of Pennsylvania
Lead Sponsor
National Eye Institute (NEI)
Collaborator