CNGB1 and Allied Disorders

NCT04639635 | Suspended DMC

• 1 other identifier: AAAS1160
• Study Type: observational
• Target: 20
• Locations: 4 countries
• Sites: 6

Brief 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

Keywords

Retinitis Pigmentosa; CNGB1; Natural Progression

Outcome Measures

Primary Outcomes (7)

• We will be looking to identify what the best outcome measurements will be for CNGB1-RP in order to use these measurements in a future clinical trial.

  Both structural imaging and functional tests will be used to characterize the natural history progression of CNGB1-RP.

  2 days, 1 time per year, for 3 years

• Medmont Dark Adapted Chromatic (DAC) Automated Perimeter

  1 time per year, for 3 years

• Full-field ERG (ISCEV Protocol)

  1 time per year, for 3 years

• Optical Coherence Tomography (OCT)

  1 time per year, for 3 years

• Fundus Autofluorescence (FAF)

  1 time per year, for 3 years

• Near-infrared fundus autofluorescence (NIR-AF)

  1 time per year, for 3 years

• Quantitative Fundus Autofluorescence (qAF)

  1 time per year, for 3 years

Secondary Outcomes (10)

• Best-corrected Visual Acuity (BCVA)

  1 time per year, for 3 years

• Complete Ophthalmic Exam

  2 time per year, for 3 years

• Color Fundus Photos

  1 time per year, for 3 years

• MAIA Microperimetry

  1 time per year, for 3 years

• NIDEK Microperimetry

  1 time per year, for 3 years

Other Outcomes (2)

• Demographics/medical history

  1 time only at baseline

• Concomitant medications/adverse events

  1 time only at baseline

Interventions

No intervention, this is a natural history progression study OTHER

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients are expected to present to the clinic at all age groups; enrollment of subjects \<18 years of age will be obtained by informed consent in the company of a parent or legal guardian. There will also be no gender-or ethnic/racial specific inclusion criteria. The enrollment of non-English speaking subjects is not expected.

You may qualify if:

• 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)

Sponsors & Collaborators

• Columbia University: lead
• Moorfields Eye Hospital NHS Foundation Trust: collaborator
• Universität Tübingen: collaborator
• Wills Eye: collaborator
• Michigan State University: collaborator
• La Fondation Voir et Entendre: collaborator
• Ludwig-Maximilians - University of Munich: collaborator

Study Sites (6)

Dr. Stephen H. Tsang

New York, New York, 10032, United States

Location

Wills Eye Hospital

Philadelphia, Pennsylvania, 19107, United States

Location

Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts

Paris, France

Location

Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich

München, Bavaria, 80336, Germany

Location

Eberhard Karls University Tubingen

Tübingen, Germany

Location

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom

Location

MeSH Terms

Conditions

Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Stephen Tsang, MD, PhD

  Columbia University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2020
• First Posted: November 20, 2020
• Study Start: March 14, 2019
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: April 13, 2026

Record last verified: 2026-04

Locations

GB (1); FR (1); US (2); DE (2)