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Clinical and Genetic Characterization of Individuals With Achromatopsia

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

Tracking Information
First Submitted Date May 1, 2013
First Posted Date May 3, 2013
Last Update Posted Date October 13, 2017
Study Start Date June 2013
Actual Primary Completion Date April 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 12, 2015)
Visual acuity [ Time Frame: Annually for up to 1.5 years ]
Visual acuity will be measured by EVA or ETDRS methods
Original Primary Outcome Measures
 (submitted: May 1, 2013)
Visual acuity [ Time Frame: Annually for up to 3 years ]
Visual acuity will be measured by EVA or ETDRS methods
Change History
Current Secondary Outcome Measures
 (submitted: January 12, 2015)
  • Color Vision [ Time Frame: annually for up to 1.5 years ]
    Color vision will be measured by Farnsworth D-15 test and anomaloscope
  • 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).
Original Secondary Outcome Measures
 (submitted: May 1, 2013)
  • Color Vision [ Time Frame: annually for up to 3 years ]
    Color vision will be measured by Farnsworth D-15 test and anomaloscope
  • Adaptive Optics Retinal Imaging [ Time Frame: annually for up to 3 years ]
    Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical and Genetic Characterization of Individuals With Achromatopsia
Official Title Clinical and Genetic Characterization of Individuals With 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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
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.
Sampling Method Non-Probability Sample
Study Population Individuals with a clinical diagnosis of achromatopsia
Condition Achromatopsia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: June 27, 2017)
56
Original Estimated Enrollment
 (submitted: May 1, 2013)
150
Actual Study Completion Date April 2017
Actual Primary Completion Date April 2017   (Final data collection date for primary outcome measure)
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.
Sex/Gender
Sexes Eligible for Study: All
Ages 6 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01846052
Other Study ID Numbers ACHM-001
1R24EY022023 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Applied Genetic Technologies Corp
Study Sponsor Applied Genetic Technologies Corp
Collaborators National Eye Institute (NEI)
Investigators
Study Director: Matt Feinsod, MD Applied Genetics Technologies Corporation
PRS Account Applied Genetic Technologies Corp
Verification Date October 2017