Clinical and Genetic Characterization of Individuals With Achromatopsia

• ClinicalTrials.gov Identifier: NCT01846052
• Recruitment Status: Completed
• First Posted: May 3, 2013
• Last Update Posted: October 13, 2017
• Sponsor: Applied Genetic Technologies Corp
• Collaborator: National Eye Institute (NEI)
• Information provided by (Responsible Party): Applied Genetic Technologies Corp

Study Description

Brief Summary:

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.

Condition or disease
Achromatopsia

Detailed Description:

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.

Study Design

• Study Type: Observational
• Actual Enrollment: 56 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Clinical and Genetic Characterization of Individuals With Achromatopsia
• Study Start Date: June 2013
• Actual Primary Completion Date: April 2017
• Actual Study Completion Date: April 2017

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Visual acuity [ Time Frame: Annually for up to 1.5 years ]
   Visual acuity will be measured by EVA or ETDRS methods

Secondary Outcome Measures :

1. Color Vision [ Time Frame: annually for up to 1.5 years ]
   Color vision will be measured by Farnsworth D-15 test and anomaloscope
2. Adaptive Optics Retinal Imaging [ Time Frame: annually for up to 1.5 years ]
   Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).

Biospecimen Retention:   Samples With DNA

DNA samples will be stored at the DNA testing laboratory for additional testing for mutations in other genes that may be causally related to achromatopsia.

Eligibility Criteria

• Ages Eligible for Study: 6 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a clinical diagnosis of achromatopsia

Criteria

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.

Contacts and Locations

Locations

United States, Florida

VitreoRetinal Associates

Gainesville, Florida, United States, 32607

Bascom Palmer Eye Institute

Miami, Florida, United States, 33136

United States, Illinois

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

Chicago, Illinois, United States, 60608

United States, Oregon

Casey Eye Institute, Oregon Health & Science University

Portland, Oregon, United States, 97239

United States, Wisconsin

Medical College of Wisconsin

Milwaukee, Wisconsin, United States, 53226

Sponsors and Collaborators

Applied Genetic Technologies Corp

National Eye Institute (NEI)

Investigators

• Study Director: Matt Feinsod, MD; Applied Genetics Technologies Corporation

More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

• Responsible Party: Applied Genetic Technologies Corp
• ClinicalTrials.gov Identifier: NCT01846052
• Other Study ID Numbers: ACHM-001; 1R24EY022023 ( U.S. NIH Grant/Contract )
• First Posted: May 3, 2013
• Last Update Posted: October 13, 2017
• Last Verified: October 2017

Keywords provided by Applied Genetic Technologies Corp:

achromatopsia, CNGB3

Additional relevant MeSH terms:

Color Vision Defects; Vision Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Cone Dystrophy; Eye Diseases, Hereditary; Eye Diseases