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CNGB1 and Allied Disorders

NCT04639635 · Status: SUSPENDED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2026-04-13

No results posted yet for this study

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

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.

Sponsors & Collaborators

  • La Fondation Voir et Entendre

    collaborator UNKNOWN

  • Michigan State University

    collaborator OTHER

  • Moorfields Eye Hospital NHS Foundation Trust

    collaborator OTHER

  • Universität Tübingen

    collaborator OTHER

  • Wills Eye

    collaborator OTHER

  • Ludwig-Maximilians - University of Munich

    collaborator OTHER

  • Columbia University

    lead OTHER

Principal Investigators

  • Stephen Tsang, MD, PhD · Columbia University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-03-14
Primary Completion
2027-02-28
Completion
2027-02-28

Countries

  • United States
  • France
  • Germany
  • United Kingdom

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04639635 on ClinicalTrials.gov