Summary

Eligibility
for people ages 6 years and up (full criteria)
Location
at San Francisco, California and other locations
Dates
study started
estimated completion
Principal Investigator
Anthony Moore

Description

Summary

This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of rAAV2tYF-PR1.7-hCNGB3 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.

Official Title

A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 (rAAV2tYF-PR1.7-hCNGB3) in Patients With Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene

Details

This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of rAAV2tYF-PR1.7-hCNGB3 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.

Subjects will be enrolled sequentially in seven dosing groups. Subjects in Groups 1, 2, 3, 4, 5, and 6 will be at least 18 years of age and will receive varying dose levels of study agent. Subjects in Groups 4a and 5a will be 6 to 17 years of age and will receive corresponding dose levels to the adult groups. Subjects in Group 7 will be at least 6 years of age and will receive the maximum tolerated dose identified in Groups 1, 2, 3, 4, 4a, 5, 5a, and 6.

Safety will be monitored by evaluation of ocular and non ocular adverse events and hematology and clinical chemistry parameters. Efficacy parameters will include visual acuity, light discomfort testing, color vision, static visual field, ERG, adaptive optics retinal imaging and OCT.

Keywords

Achromatopsia Color Vision Defects rAAV2tYF-PR1.7-hCNGB3

Eligibility

You can join if…

Open to people ages 6 years and up

include:

  1. Male or female subjects with documented mutations in both alleles of the CNGB3 gene;
  2. Retinal disease consistent with a clinical diagnosis of achromatopsia;
  3. At least 18 years of age for Groups 1, 2, 3, 4, 5 and 6 and at least 6 years of age for Groups 4a, 5a and 7;
  4. Able to perform tests of visual and retinal function;
  5. Visual acuity in the study eye not better than 55 ETDRS letters (Snellen equivalent 20/80) based on the average of two examinations at the baseline visit;
  6. Acceptable laboratory parameters;
  7. For females of childbearing potential: A negative pregnancy test within 2 days before administration of study agent.

You CAN'T join if...

include:

  1. Best-corrected visual acuity difference between the two eyes of > 15 ETDRS letters (3 lines);
  2. Evidence of degenerative myopia in the study eye;
  3. Pre-existing eye conditions that would contribute to vision loss in either eye or increase the risk of subretinal injection in the study eye.

Locations

  • University of California, San Francisco not yet accepting patients
    San Francisco California 94158 United States
  • Casey Eye Institute, Oregon Health and Sciences University accepting new patients
    Portland Oregon 97239 United States

Lead Scientist at UCSF

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Applied Genetic Technologies Corp
Links
Sponsor website
ID
NCT02599922
Phase
Phase 1/2
Study Type
Interventional
Last Updated