Clinical and Genetic Characterization of Individuals With Achromatopsia

Achromatopsia Clinical Trial

Official title:

Clinical and Genetic Characterization of Individuals With Achromatopsia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01846052
• Other study ID #: ACHM-001
• Secondary ID: 1R24EY022023
• Status: Completed
• Phase: N/A
• First received: May 1, 2013
• Last updated: October 11, 2017
• Start date: June 2013
• Est. completion date: April 2017

Study information

• Verified date: October 2017
• Source: Applied Genetic Technologies Corp
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 56
• Est. completion date: April 2017
• Est. primary completion date: April 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Achromatopsia
• Color Vision Defects

Locations

Country	Name	City	State
United States	Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp	Chicago	Illinois
United States	VitreoRetinal Associates	Gainesville	Florida
United States	Bascom Palmer Eye Institute	Miami	Florida
United States	Medical College of Wisconsin	Milwaukee	Wisconsin
United States	Casey Eye Institute, Oregon Health & Science University	Portland	Oregon

Sponsors (2)

Lead Sponsor	Collaborator
Applied Genetic Technologies Corp	National Eye Institute (NEI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Visual acuity	Visual acuity will be measured by EVA or ETDRS methods	Annually for up to 1.5 years
Secondary	Color Vision	Color vision will be measured by Farnsworth D-15 test and anomaloscope	annually for up to 1.5 years
Secondary	Adaptive Optics Retinal Imaging	Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).	annually for up to 1.5 years