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"Natural History" Study of Choroideremia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02994368
Recruitment Status : Active, not recruiting
First Posted : December 15, 2016
Last Update Posted : December 7, 2020
Roche Pharma AG
Information provided by (Responsible Party):
4D Molecular Therapeutics

Brief Summary:
The purpose of this study is to understand the rate of progression of all stages of choroideremia using a variety of assessments performed in the clinic including visual field measures, specialized photography of the eye and participant-reported visual problems

Condition or disease Intervention/treatment
Choroideremia Other: Observation

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia
Study Start Date : December 2016
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : December 2022

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
No intervention
Other: Observation

Primary Outcome Measures :
  1. Rate of progression of disease [ Time Frame: 4 years ]
    A variety of psychophysical, anatomical and image-based endpoints

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   14 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a clinical diagnosis of choroideremia

Inclusion Criteria:

  • Healthy individuals with choroideremia (20/200 or better vision) willing to participate in an observational study and meeting the eligibility criteria.

Exclusion Criteria:

  1. Prior therapy with an AAV vector-based treatment
  2. Pre-existing eye conditions that would: (1) preclude future planned treatment in a therapeutic intent clinical trial (i.e. intravitreal injection), (2) interfere with the interpretation of study endpoints, and/ or put patient at risk for surgical complications
  3. Complicating systemic diseases that would preclude future enrollment in a therapeutic intent clinical trial
  4. Any other condition that would not allow the potential subject to complete follow-up examinations during the course of the study and, in the opinion of the investigator, makes the potential subject unsuitable for the study.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02994368

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United States, Texas
Retina Foundation of the Southwest
Dallas, Texas, United States, 75251
Baylor College of Medicine, Ophthalmology-Cullen Eye Center
Houston, Texas, United States, 77030
United States, Utah
Moran Eye Center, University of Utah
Salt Lake City, Utah, United States, 84132
Canada, Alberta
University of Alberta
Edmonton, Alberta, Canada
Sponsors and Collaborators
4D Molecular Therapeutics
Roche Pharma AG
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Study Director: Robert Kim, MD 4D Molecular Therapeutics
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Responsible Party: 4D Molecular Therapeutics Identifier: NCT02994368    
Other Study ID Numbers: 4D-CHM-001-NH-0001
First Posted: December 15, 2016    Key Record Dates
Last Update Posted: December 7, 2020
Last Verified: December 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by 4D Molecular Therapeutics:
retinal degeneration
REP-1 gene
Additional relevant MeSH terms:
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Eye Diseases, Hereditary
Eye Diseases
Choroid Diseases
Uveal Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked