NCT00516477

Safety Study in Subjects With Leber Congenital Amaurosis

A Phase 1 Safety Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 Into the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-101]

• Status: Completed
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 12 (estimated)
• Sponsor: Spark Therapeutics, Inc. · Industry
• Sex: All
• Age: 8 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to determine whether gene transfer will be safe and effective in the treatment of Leber Congenital Amaurosis (LCA).

Detailed description

Leber Congenital Amaurosis (LCA)is a severe early onset retinal degeneration. Diagnosis is usually made during the first few months of life in infants who present with severely impaired vision, abnormal eye movements (nystagmus) and abnormal electroretinograms (ERG) indicating decreased retinal function. There is an inevitable progression to total blindness in these individuals due to death of photoreceptor cells. There is presently no treatment for this disease. The primary objective of this study is to determine the safety and tolerability of subretinal administration of AAV2-hRPE65v2 to subjects with LCA due to confirmed biallelic RPE65 mutations. The secondary objective is to assess the objective clinical measures of efficacy in human subjects.

Conditions

• Leber Congenital Amaurosis

Interventions

Type	Name	Description
BIOLOGICAL	voretigene neparvovec-rzyl	Subjects will be dosed unilaterally (one eye) beginning with the lowest dose. Subjects will be injected with AAV2-hRPE65v2 by means of a subretinal injection. Dose escalation to the next cohort will be dependent on assessment of the safety data by the DSMB out to at least 4 weeks following the injection. Because there is a delay between time of delivery of AAV2 and the peak transgene expression there will be a delay of six weeks between all subjects.

Timeline

• Start date: 2007-09-01
• Primary completion: 2018-03-20
• Completion: 2018-03-20
• First posted: 2007-08-15
• Last updated: 2020-11-02

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study