CNGB1 and Allied Disorders

Columbia University

Status: Enrolling

Conditions: Retinitis Pigmentosa Associated With CNGB1 Mutations

Treatments: Other: No intervention, this is a natural history progression study

Study type: Observational

Funder types: Other

Identifiers

NCT04639635

AAAS1160

Details and patient eligibility

About

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.

Enrollment: 20 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• Diagnosis of CNGB1-associated RP by study physician, who are trained retinal specialists in the university clinic
• Must be able to commit to 4 follow-up study visits (3 years)