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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
Health authority
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.

Study Design


Related Conditions & MeSH terms


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
See also
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Active, not recruiting NCT02610582 - Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia Phase 1/Phase 2
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Completed NCT03278873 - Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3 Phase 1/Phase 2
Recruiting NCT02435940 - Inherited Retinal Degenerative Disease Registry
Active, not recruiting NCT01648452 - CNTF Implants for CNGB3 Achromatopsia Phase 1/Phase 2
Completed NCT03001310 - Gene Therapy for Achromatopsia (CNGB3) Phase 1/Phase 2
Active, not recruiting NCT02935517 - Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial) Phase 1/Phase 2
Completed NCT03758404 - Gene Therapy for Achromatopsia (CNGA3) Phase 1/Phase 2
Active, not recruiting NCT02599922 - Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial) Phase 1/Phase 2