Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-25 @ 1:22 AM
Ignite Modification Date:
2025-12-25 @ 1:22 AM
NCT ID:
NCT01736293
Eligibility Criteria:
* 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.
Healthy Volunteers:
False
Sex:
ALL
Minimum Age:
12 Years
Maximum Age:
100 Years
Study:
NCT01736293
Study Brief:
Protocol Section:
NCT01736293