Observing the progression of Stargardt-like Macular Dystrophy due to ELOVL4 mutations
An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
This study is trying to see how Stargardt-like Macular Dystrophy affects vision and eye health over time in people aged 10 and older with ELOVL4 gene mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 10 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT04591483 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 10 and older diagnosed with STDG3 due to a mutation in the ELOVL4 gene.
Not a fit: Patients with multiple mutations in ABCA4 or systemic medical contraindications related to ELOVL4 may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of STDG3, potentially informing future treatment strategies.
How similar studies have performed: While there have been cross-sectional studies on STDG3, this longitudinal approach is relatively novel and aims to fill a gap in existing research.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Bethesda, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.