CNGB1 and Allied Disorders

April 7, 2026 updated by: Columbia University

Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Suspended

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • France
      • Paris, France
        • Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
  • Germany
      • Tübingen, Germany
        • Eberhard Karls University Tubingen
    • Bavaria
      • München, Bavaria, Germany, 80336
        • Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich
  • United Kingdom
      • London, United Kingdom
        • Moorfields Eye Hospital NHS Foundation Trust
  • United States
    • New York
      • New York, New York, United States, 10032
        • Dr. Stephen H. Tsang
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19107
        • Wills Eye Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
Time Frame: 2 days, 1 time per year, for 3 years
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
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Full-field ERG (ISCEV Protocol)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Optical Coherence Tomography (OCT)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Fundus Autofluorescence (FAF)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Near-infrared fundus autofluorescence (NIR-AF)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Quantitative Fundus Autofluorescence (qAF)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Best-corrected Visual Acuity (BCVA)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Complete Ophthalmic Exam
Time Frame: 2 time per year, for 3 years
2 time per year, for 3 years
Color Fundus Photos
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
MAIA Microperimetry
Time Frame: 1 time per year, for 3 years
if available
1 time per year, for 3 years
NIDEK Microperimetry
Time Frame: 1 time per year, for 3 years
if available
1 time per year, for 3 years
Goldman Kinetic Visual Field
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Light-adapted Static Perimetry
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Panel D-15 Colour Vision (desat.)
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Dark-adapted Chromatic Perimetry
Time Frame: 1 time per year, for 3 years
1 time per year, for 3 years
Full-field Stimulus Testing (FST)
Time Frame: 1 time per year, for 3 years
Optional
1 time per year, for 3 years

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Time Frame
Demographics/medical history
Time Frame: 1 time only at baseline
1 time only at baseline
Concomitant medications/adverse events
Time Frame: 1 time only at baseline
1 time only at baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Columbia University

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Ludwig-Maximilians - University of Munich
Moorfields Eye Hospital NHS Foundation Trust
Wills Eye
Michigan State University
Universität Tübingen
La Fondation Voir et Entendre

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Stephen Tsang, MD, PhD, Columbia University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 14, 2019

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
February 1, 2027

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
February 1, 2027

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 7, 2020

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 16, 2020

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 20, 2020

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 13, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 7, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • AAAS1160

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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