ClinicalTrials.Veeva

Menu

CNGB1 and Allied Disorders

Columbia University logo

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)

Trial contacts and locations

6

Loading...

Central trial contact

Amiela Canin

Data sourced from clinicaltrials.gov

Clinical trials

Find clinical trialsTrials by location
© Copyright 2025 Veeva Systems