DHA Supplementation in Patients with Stargardt disease


Status: Recruiting
Keywords: Stargart disease , DHA , docosahexaenoic acid
IRB Number: 00019676
Specialty: Ophthalmology
Sub Specialties:

Brief Summary

The form of dominantly inherited Stargardt disease (STGD3) is due to a mutation in the gene encoding the ELOVL4 protein, which is thought to be involved in the biosynthesis and/or deposition of very long chain fatty acids in the human retina, where they are required for normal structure and function of the photoreceptor cells. This defect lends itself to the hypothesis that supplementation with the endproducts of long chain fatty acid synthesis may bypass the ELOVL4 gene defect and provide beneficial visual effects for patients. We have found that biomarkers of long-term elevated dietary intake of omega-3 fatty acids such as DHA and EPA are inversely associated with severity of disease phenotype in STGD3 patients. Other published studies have shown improvement of the multifocal electroretinogram (ERG) and visual function with active periods of DHA supplementation in a single patient.

An extended family studied by physicians at the Moran Eye Center has been identified to be carriers of the rare STGD3 genes, and approximately 18 adult memebers exhibit STGD3 pathologies. No other STGD3 patients outside of this kindred have been identified at the Moran Eye Center.

Because DHA/EPA supplementation is easily accessible without prescription to everyone and patient numbers are extremely limited, a nonrandomized, open-label, observational clinical study is the most logical and simple approach to study the benefits of supplemental DHA effects. All Moran Eye Center patients with STGD3 will be invited to participate in this study. A baseline exam will be performed to document current eye conditions, visual function questionnaire, fundus photography, auto fluorescence imaging, full-field and multifocal ERG, dark adaptation threshold testing, self reported supplementation history, and red blood cell lipid analysis to monitor DHA/EPA levels. Patients will be informed about the proposed benefits of DHA supplementation and invited to start their own supplementation. The baseline tests will be conducted once every year for at least 3 years to follow disease progression and monitor supplement use.

Principal Investigator: Paul Bernstein
Department: Ophthalmology-Services
Co Investigator:

Contact Information

Name:Bonnie Carlstrom
Phone: 801-585-7975
Email: bonnie.carlstrom@hsc.utah.edu

Inclusion Criteria

All adults within the Moran Eye Center population (kindred K4175)with dominantly inherited Stargardt's disease (STGD3) will be eligible to participate

Exclusion Criteria