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Clinical and Genetic Characterization of Individuals With Achromatopsia

NCT ID: NCT01846052

Last Updated: 2017-10-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

56 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-06-30

Study Completion Date

2017-04-30

Brief Summary

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The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.

Detailed Description

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Individuals with a clinical diagnosis of achromatopsia will be asked to provide informed consent and will then have a single 5 mL blood sample drawn for DNA sequence analysis of genes known to cause achromatopsia, including the CNGB3 gene. All participants will be informed of the results of testing for these mutations. Those with mutations in both alleles of the CNGB3 gene will be evaluated every 6 months for up to 1.5 years by using a variety of non-invasive visual function tests to more fully characterize their clinical condition. This testing will include routine ophthalmic examination and tests of visual acuity, color vision, reading speed, perimetry, nystagmus, light sensitivity, optical coherence tomography, adaptive optics retinal imaging, electroretinography, fundus photography and completion of a quality of life questionnaire.

Conditions

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Achromatopsia

Keywords

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achromatopsia, CNGB3

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

1. Clinical diagnosis of achromatopsia (screening portion of study);
2. Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
3. At least 6 years of age;
4. Willing and able to perform study procedures;
5. Signed informed consent(s) obtained (and child assent where applicable).

Exclusion Criteria

1. Not able to have a blood sample drawn;
2. Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
3. Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
4. Use of medications that may impair color vision (e.g. hydroxychloroquine);
5. Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
Minimum Eligible Age

6 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Eye Institute (NEI)

NIH

Sponsor Role collaborator

Beacon Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Matt Feinsod, MD

Role: STUDY_DIRECTOR

Applied Genetics Technologies Corporation

Locations

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VitreoRetinal Associates

Gainesville, Florida, United States

Site Status

Bascom Palmer Eye Institute

Miami, Florida, United States

Site Status

Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp

Chicago, Illinois, United States

Site Status

Casey Eye Institute, Oregon Health & Science University

Portland, Oregon, United States

Site Status

Medical College of Wisconsin

Milwaukee, Wisconsin, United States

Site Status

Countries

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United States

References

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Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J; ACHM-001 Study Group. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3984-95. doi: 10.1167/iovs.16-19313.

Reference Type DERIVED
PMID: 27479814 (View on PubMed)

Other Identifiers

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1R24EY022023

Identifier Type: NIH

Identifier Source: secondary_id

View Link

ACHM-001

Identifier Type: -

Identifier Source: org_study_id