Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)

NCT03602820 | Active Not Recruiting DMC FDA Drug

• 1 other identifier: AAV2-hRPE65v2-LTFU-01
• Study Type: observational
• Target: 41
• Locations: 0 countries
• Sites: N/A

Brief Summary

Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject. The study is a non-interventional, follow-up study of subjects who participated in previous AAV2-hRPE65v2 gene therapy clinical trials.

Conditions

Inherited Retinal Dystrophy Due to RPE65 Mutations

Keywords

Leber congenital amaurosis, retinitis pigmentosa

Outcome Measures

Primary Outcomes (1)

• Mobility testing, Bilateral

  Mobility testing will be videotaped at each study visit at which it is conducted. Independent reviewers may grade subjects' mobility videos. Graders will use a defined combination of speed and accuracy to grade each course attempt at a given light intensity. The course will be re-configured between each attempt, using twelve standardized templates, to reduce the impact of a potential learning effect. Each subject will be tested, using both eyes, under at least two and sometimes three different (specified) lighting conditions. The levels of light, selected to span lighting conditions that individuals encounter in daily life, range from a studio with floodlights (400 lux) or a brightly lit office (250 lux) down to a poorly lit sidewalk at night (1 lux).

  15 years

Secondary Outcomes (3)

• Full-field light sensitivity threshold (FST) testing

  15 years

• Mobility testing, Monocular

  15 years

• Visual acuity

  15 years

Other Outcomes (2)

• Visual field testing - Humphrey and/or Goldmann

  15 years

• Visual function questionnaire

  15 years

Interventions

AAV2-hRPE65v2 BIOLOGICAL

Also known as: Voretigene Neparvovec-rzyl

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals who received the subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl) in the Phase 1 or Phase 3 clinical trials

You may qualify if:

• \. Subjects who participated in prior subretinal AAV2-hRPE65v2 gene therapy clinical studies

You may not qualify if:

• Subjects who will not consent for study.
• Subjects who the investigators believe are not capable of performing study assessments

Sponsors & Collaborators

• Spark Therapeutics, Inc.: lead

MeSH Terms

Conditions

Leber Congenital Amaurosis; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Albert Maguire, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

• Stephen Russell, MD

  University of Iowa

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 18, 2018
• First Posted: July 27, 2018
• Study Start: June 1, 2015
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: April 18, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share