Clinical and Genetic Characterization of Individuals With... | NCT01846052

Studies
Clinical and Genetic Characterization of Individuals With Achromatopsia

NCT01846052

Sponsor

Beacon Therapeutics

Status

Completed

Last Update Posted

Oct 13, 2017Actual

Enrollment

56Actual

Phase

Not provided

Conditions

Achromatopsia

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
1R24EY022023	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Oct 2017

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2013

Primary Completion Date

Apr 2017Actual

Completion Date

Apr 2017Actual

First Submitted Date

May 1, 2013

First Submission Date that Met QC Criteria

May 1, 2013

First Posted Date

May 3, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 11, 2017

Last Update Posted Date

Oct 13, 2017Actual

Name	Class
National Eye Institute (NEI)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

56Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Visual acuity	Visual acuity will be measured by EVA or ETDRS methods	Annually for up to 1.5 years

Secondary Outcomes

Measure	Description	Time Frame
Color Vision	Color vision will be measured by Farnsworth D-15 test and anomaloscope	annually for up to 1.5 years
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).

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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).

Exclusion Criteria:

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals with a clinical diagnosis of achromatopsia

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Matt Feinsod, MD	Applied Genetics Technologies Corporation	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
VitreoRetinal Associates		Gainesville	Florida	32607	United States
Bascom Palmer Eye Institute

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
27479814	Derived	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.

ID	Term
D003117	Color Vision Defects
C536129	Achromatopsia 3

ID	Term
D014786	Vision Disorders
D012678	Sensation Disorders
D009461	Neurologic Manifestations
D009422	Nervous System Diseases