Clinical trial NCT01846052: Clinical and Genetic Characterization of Individuals With Achromatopsia
Official title: Clinical and Genetic Characterization of Individuals With Achromatopsia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Achromatopsia
Keywords: achromatopsia, CNGB3
Lead sponsor: Beacon Therapeutics
Sponsor class: INDUSTRY
Collaborators: name: National Eye Institute (NEI)
First posted: 2013-05-03
Enrollment: 56
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with a clinical diagnosis of achromatopsia

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.

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.

Eligibility 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.

Primary outcomes:
measure: Visual acuity
timeFrame: Annually for up to 1.5 years
Secondary outcomes:
measure: Color Vision
timeFrame: annually for up to 1.5 years
measure: Adaptive Optics Retinal Imaging
timeFrame: annually for up to 1.5 years
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: VitreoRetinal Associates
state: Florida
city: Miami
country: United States
facility: Bascom Palmer Eye Institute
state: Florida
city: Chicago
country: United States
facility: Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
state: Illinois
city: Portland
country: United States
facility: Casey Eye Institute, Oregon Health & Science University
state: Oregon
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
Study officials:
affiliation: Applied Genetics Technologies Corporation
name: Matt Feinsod, MD
role: STUDY_DIRECTOR
References:
citation: 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.