NCT01846052

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
56

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jun 2013

Longer than P75 for all trials

Geographic Reach
1 country

5 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 1, 2013

Completed
2 days until next milestone

First Posted

Study publicly available on registry

May 3, 2013

Completed
29 days until next milestone

Study Start

First participant enrolled

June 1, 2013

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2017

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2017

Completed
Last Updated

October 13, 2017

Status Verified

October 1, 2017

Enrollment Period

3.8 years

First QC Date

May 1, 2013

Last Update Submit

October 11, 2017

Conditions

Achromatopsia

Keywords

achromatopsia, CNGB3

Outcome Measures

Primary Outcomes (1)

  • Visual acuity

    Visual acuity will be measured by EVA or ETDRS methods

    Annually for up to 1.5 years

Secondary Outcomes (2)

  • Color Vision

    annually for up to 1.5 years

  • Adaptive Optics Retinal Imaging

    annually for up to 1.5 years

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with a clinical diagnosis of achromatopsia

You may qualify if:

  • Clinical diagnosis of achromatopsia (screening portion of study);
  • Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
  • At least 6 years of age;
  • Willing and able to perform study procedures;
  • Signed informed consent(s) obtained (and child assent where applicable).

You may not qualify if:

  • Not able to have a blood sample drawn;
  • 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);
  • Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
  • Use of medications that may impair color vision (e.g. hydroxychloroquine);
  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (5)

VitreoRetinal Associates

Gainesville, Florida, 32607, United States

Location

Bascom Palmer Eye Institute

Miami, Florida, 33136, United States

Location

Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp

Chicago, Illinois, 60608, United States

Location

Casey Eye Institute, Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Medical College of Wisconsin

Milwaukee, Wisconsin, 53226, United States

Location

Related Publications (1)

  • 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.

    PMID: 27479814DERIVED

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.

MeSH Terms

Conditions

Color Vision DefectsAchromatopsia 3

Condition Hierarchy (Ancestors)

Vision DisordersSensation DisordersNeurologic ManifestationsNervous System DiseasesCone DystrophyEye Diseases, HereditaryEye DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

  • Matt Feinsod, MD

    Applied Genetics Technologies Corporation

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 1, 2013

First Posted

May 3, 2013

Study Start

June 1, 2013

Primary Completion

April 1, 2017

Study Completion

April 1, 2017

Last Updated

October 13, 2017

Record last verified: 2017-10

Locations

US(5)