CNGB1 and Allied Disorders
Trial Summary
What is the purpose of this trial?
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.
Research Team
Stephen Tsang, MD, PhD
Principal Investigator
Columbia University
Eligibility Criteria
Inclusion Criteria
Treatment Details
Interventions
- CNGB1 Gene Therapy (Gene Therapy)
Find a Clinic Near You
Who Is Running the Clinical Trial?
Columbia University
Lead Sponsor
Michigan State University
Collaborator
La Fondation Voir et Entendre
Collaborator
Moorfields Eye Hospital NHS Foundation Trust
Collaborator
Universität Tübingen
Collaborator
Wills Eye
Collaborator
Ludwig-Maximilians - University of Munich
Collaborator