Trial record 2 of 2 for:    Open Studies | "Color Vision Defects"

Clinical and Genetic Characterization of Individuals With Achromatopsia

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Applied Genetic Technologies Corp
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Applied Genetic Technologies Corp
ClinicalTrials.gov Identifier:
NCT01846052
First received: May 1, 2013
Last updated: November 26, 2013
Last verified: November 2013
  Purpose

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 once a year for up to 3 years.


Condition
Achromatopsia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Genetic Characterization of Individuals With Achromatopsia

Further study details as provided by Applied Genetic Technologies Corp:

Primary Outcome Measures:
  • Visual acuity [ Time Frame: Annually for up to 3 years ] [ Designated as safety issue: No ]
    Visual acuity will be measured by EVA or ETDRS methods


Secondary Outcome Measures:
  • color vision [ Time Frame: annually for up to 3 years ] [ Designated as safety issue: No ]
    Color vision will be measured by Farnsworth D-15 test and anomaloscope

  • adaptive optics retinal imaging [ Time Frame: annually for up to 3 years ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 150
Study Start Date: June 2013
Estimated Study Completion Date: July 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
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 once a year for up to 3 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

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01846052

Locations
United States, Florida
University of Florida College of Medicine Not yet recruiting
Gainesville, Florida, United States, 32610
Contact: Christine N Kay, MD    352-273-8793    ckay@uf.edu   
Principal Investigator: Christine N Kay, MD         
Bascom Palmer Eye Institute Recruiting
Miami, Florida, United States, 33136
Contact: Byron L Lam, MD    305-326-6021    blam@med.miami.edu   
Principal Investigator: Byron L Lam, MD         
United States, Illinois
Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp Recruiting
Chicago, Illinois, United States, 60608
Contact: Carol White, CCRC    312-447-3254    Carol.White@CHICAGOLIGHTHOUSE.ORG   
Sub-Investigator: Gerald A Fishman, MD         
United States, Oregon
Casey Eye Institute, Oregon Health & Science University Not yet recruiting
Portland, Oregon, United States, 97239
Contact: Oregon Retinal Degeneration Center    503-494-0020    ordc@ohsu.edu   
Principal Investigator: Richard G Weleber, MD         
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Joseph J Carroll, PhD    414-955-2052    jcarroll@mcw.edu   
Principal Investigator: Joseph J Carroll, PhD         
Sponsors and Collaborators
Applied Genetic Technologies Corp
Investigators
Principal Investigator: Richard G Weleber, MD Casey Eye Institute, Oregon Health & Science University
Principal Investigator: Gerald A Fishman, MD Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired
Principal Investigator: Byron L Lam, MD Bascom Palmer Eye Institute
Principal Investigator: Joseph J Carroll, PhD Medical College of Wisconsin
Principal Investigator: Christine N Kay, MD University of Florida
  More Information

No publications provided

Responsible Party: Applied Genetic Technologies Corp
ClinicalTrials.gov Identifier: NCT01846052     History of Changes
Other Study ID Numbers: ACHM-001, 1R24EY022023
Study First Received: May 1, 2013
Last Updated: November 26, 2013
Health Authority: United States: Institutional Review Board

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
Eye Diseases
Signs and Symptoms

ClinicalTrials.gov processed this record on August 21, 2014