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Protocol Details

Natural History of ABCA4-Related Retinopathies

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

12-EI-0203

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 12 Years
Max Age: 100 Years

Referral Letter Required

Yes

Population Exclusion(s)

Adults who are or may become unable to consent

Keywords

Retinal Degeneration;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Retinal Degeneration;
ABCA4-Related Retinopathies

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

Background:

- The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases.

Objectives:

- To study eye diseases that are related to mutations in the ABCA4 gene.

Eligibility:

- Individuals at least 12 years of age who have ABCA4 gene mutations.

Design:

- The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years.

- Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function.

- Participants will provide a blood sample and a skin tissue sample for study.

- No treatment will be provided as part of this study.

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Eligibility

NCLUSION CRITERIA:

1. Participant must be 12 years of age or older.

2. Participant (or legal guardian) must understand and sign the protocol s informed consent document.

3. Participant must be able to cooperate with detailed psychophysics and electrophysiology testing.

4. Participant must be able to provide a blood sample.

5. Participant has:

-A maculopathy or retinal degeneration plus two (or more) clear mutations in the ABCA4 gene (ascertained with CLIA-certified testing) that are known to be associated with retinal disease,

OR

-One clear mutation in ABCA4 associated with a classic presentation of fundus flavimaculatus/Stargardt macular dystrophy (e.g., flecks, macular atrophy) and no pathogenic mutation(s) in other genes known to cause macular dystrophy.

OR

-One clear mutation in ABCA4, a cone-rod degeneration and no clearly pathogenic mutation(s) in other genes known to cause cone-rod degeneration.

EXCLUSION CRITERIA:

Participant has evidence of a systemic condition or ocular disease not related to ABCA4 mutations that would complicate the analysis of psychophysical, electrophysiological, or imaging data. For example, a participant with advanced diabetes mellitus and significant diabetic retinopathy may display changes in retinal function that could be related to either his/her diabetic retinopathy or ABCA4 mutations.


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Citations:

Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Sep;17(1):122.

Gomes NL, Greenstein VC, Carlson JN, Tsang SH, Smith RT, Carr RE, Hood DC, Chang S. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3953-9. Epub 2009 Mar 25.

Gonz(SqrRoot)(Degree)lez F, Bou(SqrRoot)(Copyright) S, Izpis(SqrRoot) a Belmonte JC. Methods for making induced pluripotent stem cells: reprogramming (SqrRoot)(Cross) la carte. Nat Rev Genet. 2011 Apr;12(4):231-42. Epub 2011 Feb 22.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Brian P. Brooks, M.D.
National Eye Institute (NEI)
NIHBC 10 - CLINICAL CENTER BG RM 10B11
10 CENTER DR
BETHESDA MD 20892
(301) 496-3577
brooksb@mail.nih.gov

Cathy Kangale-Whitney, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 402-4174
cathy.kangale-whitney@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT01736293

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