Observing the progression of Stargardt-like Macular Dystrophy due to ELOVL4 mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to understand the natural history of Stargardt-like Macular Dystrophy (STDG3) by assessing longitudinal changes in retinal structure and function in affected individuals. Participants aged 10 and older with mutations in the ELOVL4 gene will undergo a series of six visits over three years, including comprehensive eye exams and imaging tests. The study will track changes in retinal health and functional vision, providing valuable insights into the disease's progression.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable.

1. Stated willingness to comply with all study procedures and availability for the duration of the study.
2. Participant must be at least ten years of age.
3. Ability to perform required functional testing and ophthalmic imaging.
4. A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
5. Participant (or legal guardian) must understand and sign the protocol s informed consent document.

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present.

1. Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Brett G Jeffrey, Ph.D. — National Eye Institute (NEI)
• Study coordinator: Daniel W Claus, R.N.
• Email: daniel.claus@nih.gov
• Phone: (301) 451-1621

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.