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Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
NCT00481546 · View on ClinicalTrials.gov ↗
Study Summary
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.
Conditions Studied
Interventions
- GENETIC rAAV2-CBSB-hRPE65
Study Locations (2)
Florida
- Shands Children's Hospital, University of Florida — Gainesville
Pennsylvania
- Scheie Eye Institute, University of Pennsylvania — Philadelphia
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 15 participants |
| Start Date | 2007-07 |
| Est. Completion | 2026-06 |
| Phase | Phase 1 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00481546
The ClinicalTrials.gov registry entry for NCT00481546 describes a study currently listed as active not recruiting. It is categorized as Phase 1, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 15 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is University of Pennsylvania, which has 1,457 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 2 conditions, with Retinal Diseases appearing as the primary indexed condition, and to 1 intervention — of which rAAV2-CBSB-hRPE65 is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00481546 reports 2 study locations spanning 2 distinct geographic areas — top geographies include Florida, Pennsylvania. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00481546 about?
NCT00481546 is a clinical study titled "Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations". 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 s...
What is the current status of trial NCT00481546?
This trial is currently active not recruiting. It is a Phase 1 study. The enrollment target is 15 participants. The study started on 2007-07. Estimated completion is 2026-06.
What conditions does trial NCT00481546 study?
This clinical trial studies the following conditions: Retinal Diseases, Amaurosis of Leber. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT00481546?
The interventions under investigation include: rAAV2-CBSB-hRPE65 (GENETIC). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT00481546?
This trial is sponsored by University of Pennsylvania, which has 1,457 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00481546 being conducted?
This trial has 2 study locations across Florida, Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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