Actively Recruiting // Clinical Trials // Congenital Achromatopsia // Genetic mutation // Inherited Retinal Degeneration // Kimberly Stepien // Sep 30 2020

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

  • Sponsor: Applied Genetic Technologies Corp
  • Principal Investigator: Kimberly Stepien, MD
  • Study Coordinator: Nickie Stangel

Study objective:

To evaluate 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.

Study design:

The study involves 12 visits the first year, and annual visits over the next 4 years. Subjects will be enrolled sequentially in to one of seven dosing groups. Subjects will either receive varying dose levels of study agent or the maximum tolerated dose.

Inclusion criteria:

  • Male or female subjects with documented mutations in both alleles of the CNGB3 gene;
  • Retinal disease consistent with a clinical diagnosis of achromatopsia;
  • 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;
  • Able to perform tests of visual and retinal function;
  • 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;
  • Acceptable laboratory parameters;
  • For females of childbearing potential: A negative pregnancy test within 2 days before administration of study agent

Exclusion criteria:

  • Best-corrected visual acuity difference between the two eyes of > 15 ETDRS letters (3 lines);
  • Evidence of degenerative myopia in the study eye;

Contact Nickie Stangel with questions: 608-263-8783. For more information about this study: visit clinicaltrials.govĀ