Natural History of Eye Diseases Related to ABCA4 Mutations

Plain-language summary

This study investigates the natural history of eye diseases (maculopathy or retinal degeneration, such as Stargardt disease) caused by ABCA4 gene mutations. It included participants aged 12 and older with known ABCA4 mutations who could perform detailed eye tests. It was an observational (non-phase) study, ongoing but not currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Active, not recruiting

Sponsor

National Eye Institute (NEI)

Start date

10/9/2012

Countries

United States

Related genes

Locations

• Bethesda, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine 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.