NCT01736293

Brief Summary

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.

Trial Health

73
Monitor

Trial Health Score

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

Enrollment
68

participants targeted

Target at P25-P50 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

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

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 9, 2012

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

November 27, 2012

Completed
2 days until next milestone

First Posted

Study publicly available on registry

November 29, 2012

Completed
Last Updated

April 8, 2026

Status Verified

January 23, 2026

First QC Date

November 27, 2012

Last Update Submit

April 7, 2026

Conditions

Retinal DegenerationABCA4-Related Retinopathies

Keywords

Retinal DegenerationNatural History

Outcome Measures

Primary Outcomes (1)

  • Establish cohort

    Establish a cohort of participants with ABCA4 retinopathies in anticipation of future clinical trials.

    Over the study duration

Study Arms (1)

Affected Participants

Participants with ABCA4-related retinopathies.

Eligibility Criteria

Age12 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Participants will be recruited from other NEI protocols, such as the Ocular Natural History Protocol (16-EI-0134), the Genetics of Inherited Eye Disease Protocol (15-EI-0128), the NEI Screening Protocol (08-EI-0102), and/or the National Ophthalmic Disease Genotyping and Phenotyping Network, Phase II Protocol (eyeGENE II, 10-EI-N164), or through referral from an outside clinician after a review of pertinent medical records and genetic test results.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (5)

  • 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. doi: 10.1038/ng0997-122a. No abstract available.

    PMID: 9288113BACKGROUND

  • 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. doi: 10.1167/iovs.08-2657. Epub 2009 Mar 25.

    PMID: 19324865BACKGROUND

  • Gonzalez F, Boue S, Izpisua Belmonte JC. Methods for making induced pluripotent stem cells: reprogramming a la carte. Nat Rev Genet. 2011 Apr;12(4):231-42. doi: 10.1038/nrg2937. Epub 2011 Feb 22.

    PMID: 21339765BACKGROUND

  • Pfau M, Huryn LA, Boyle MP, Cukras CA, Zein WM, Turriff A, Ullah E, Hufnagel RB, Jeffrey BG, Brooks BP. Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates. Am J Ophthalmol. 2023 Sep;253:224-232. doi: 10.1016/j.ajo.2023.05.014. Epub 2023 May 20.

    PMID: 37211138DERIVED

  • Pfau M, Cukras CA, Huryn LA, Zein WM, Ullah E, Boyle MP, Turriff A, Chen MA, Hinduja AS, Siebel HE, Hufnagel RB, Jeffrey BG, Brooks BP. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 Jan 25;7(2):e155373. doi: 10.1172/jci.insight.155373.

    PMID: 35076026DERIVED

Related Links

MeSH Terms

Conditions

Retinal Degeneration

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal Diseases

Study Officials

  • Brian P Brooks, M.D.

    National Eye Institute (NEI)

    PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

First Submitted

November 27, 2012

First Posted

November 29, 2012

Study Start

October 9, 2012

Last Updated

April 8, 2026

Record last verified: 2026-01-23

Data Sharing

IPD Sharing
Will not share

Locations

US(1)