Gene Therapy for Leber Congenital Amaurosis
(LCA Trial)

Recruiting in Palo Alto (17 mi)

+1 other location

Overseen bySamuel G. Jacobson, MD, PhD

Age: Any Age

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1

Waitlist Available

Sponsor: University of Pennsylvania

No Placebo Group

Trial Summary

What is the purpose of this trial?A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber congenital amaurosis (LCA), an incurable retinal degeneration that causes severe vision loss. The proposed study is an open label, Phase I clinical trial of subretinal rAAV2-CBSB-hRPE65 administration to individuals with RPE65-associated retinal disease. Five cohorts will be included in this trial. Cohorts 1, 2 and 4 will consist of individuals 18 years of age and older. Cohorts 3 and 5 will consist of individuals between the ages of 8 and 17, inclusive. Enrollment in Cohorts 3 and 5 will begin only after confirming the safety of rAAV2-CBSB-hRPE65 administration in the older groups of participants. This trial will lead to a greater understanding of the safety and thereby potential value of gene transfer in RPE65-associated retinal disease and will have implications for other forms of retinal degenerative disease amenable to this type of intervention. The goal of this clinical trial is to determine the safety of uniocular subretinal administration of rAAV2-CBSB-hRPE65 in individuals with RPE65-associated retinal disease. Ocular and systemic toxicity will be assessed prior to and following vector administration to determine if there are adverse changes that may be associated with vector administration.

Eligibility Criteria

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

I am 18 years old or older.

I have LCA/EORD with very poor vision in my study eye.

You are in overall good health.

+7 more

Exclusion Criteria

Your body has a high level of AAV antibodies before starting the study.

I don't have eye conditions that would affect surgery or study results.

Any condition that makes the subject unsuitable for the study

+9 more

Participant Groups

The trial is testing a gene therapy called rAAV2-CBSB-hRPE65 delivered directly under the retina. The goal is to restore vision in those affected by certain genetic mutations causing retinal disease. This early-phase study will assess safety across different age groups before and after treatment.

1Treatment groups

Experimental Treatment

Group I: ExperimentalExperimental Treatment1 Intervention

All clinical trial subjects received the same vector.