NCT04639635

CNGB1 and Allied Disorders

Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders

• Status: Suspended
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: Columbia University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Retinitis Pigmentosa Associated With CNGB1 Mutations

Interventions

Type	Name	Description
OTHER	No intervention, this is a natural history progression study	The objective is to better understand the disease process of CNGB1-RP so that we can develop clinical tests to measure the outcomes of treatment.

Timeline

• Start date: 2019-03-14
• Primary completion: 2027-02-01
• Completion: 2027-02-01
• First posted: 2020-11-20
• Last updated: 2026-04-13

Locations

6 sites across 4 countries: United States, France, Germany, United Kingdom