Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy

NCT00060749 | Completed Phase 1

• 2 other identifiers: 03017903-EI-0179
• Study Type: interventional
• Target: 22
• Locations: 1 country
• Sites: 1

Brief Summary

This study will evaluate whether docosahexaenoic acid (DHA) dietary supplementation can improve macular function in patients with Stargardt macular dystrophy and Stargardt-like macular dystrophy. Stargardt macular dystrophy is a recessive inherited trait that causes a severe form of macular degeneration. (The macula is the center part of the retina in the back of the eye that is responsible for fine vision.) The disorder begins in late childhood and progresses to a significant decrease in central vision. One of the earliest signs of the disorder is accumulation in and under the macula of a fatty pigment called lipofuscin. Stargardt-like macular dystrophy is a dominant inherited trait involving loss of central vision, but it begins later than Stargardt macular dystrophy, and the accumulation of lipofuscin extends beyond the central region of the macula. DHA is a fatty acid that is essential for normal brain and eye development. It is normally found in the diet, but not in large amounts. Supplements may help prevent or slow the progression of some eye diseases. Patients with autosomal dominant Stargardt-like macular dystrophy or autosomal recessive Stargardt macular dystrophy are eligible for this study. Candidates will be screened with the following tests and procedures:

• Medical history and physical examination.
• Blood test to measure levels of DHA and vitamins.
• Eye examination: The patient's vision and eye pressure are tested, then the pupils are dilated to examine structures inside the eye. Photographs are also taken.
• Visual field test: The patient looks at a tiny spot of light projected onto a white screen and is asked to note when other lights appear at other places on the screen.
• Electroretinogram (ERG): An electrode (small silver disk) is taped to the patient's forehead. Drops are given to numb the eyes and special contact lenses are inserted in the eyes. For the first part of the test, the patient looks at the center of a black and white checkerboard screen that flickers for 30 seconds at a time. This is repeated 16 or more times. For the second part of the test, the patient looks inside a sphere, in which flashes of light flicker for 20 seconds at a time. This is repeated four or more times. The contact lenses sense small electrical signals generated by the retina during the tests. Participants will begin taking DHA capsules or a placebo (look-alike capsules with no active ingredient) from 1 week to 3 months after enrolling in the study and will repeat several of the screening tests at follow-up visits scheduled 3, 6, 9, 12, and 15 months after they start taking the capsules. They will also be interviewed about any treatment side effects.

Conditions

Macular Degeneration

Keywords

Stargardt; Macular Dystrophy; ELOVL4; DHA; Stargardt's Disease; Autosomal Dominant Macular Dystrophy; Autosomal Recessive Macular Dystrophy

Interventions

Docosahexaenoic Acid (DHA) Dietary Supplement DRUG

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Understand and sign the informed consent.
• Able to comply with all study procedures (likely to exclude participants less than 10 years of age, but not necessarily).
• Autosomal Recessive Stargardt Macular Dystrophy Participants (must be observed in at least one study eye):
• Have a pattern of inheritance that indicates autosomal recessive inheritance.
• Have a phenotype consistent with the diagnosis of autosomal recessive Stargardt macular dystrophy including the following clinical features: fundus examination showing bilateral central maculopathy and/or fundus flecks, or characteristic changes on an intravenous fluorescein angiogram.
• Autosomal Dominant Stargardt-like Macular Dystrophy Participants (must be observed in at least one study eye):
• Have a pattern of inheritance that indicates autosomal dominant inheritance.
• Have a phenotype consistent with the diagnosis of Stargardt-like macular dystrophy that may include: fundus examination showing bilateral central maculopathy and fundus flecks confined to the central macula, or intravenous fluorescein angiogram.

You may not qualify if:

• \. Have a non-recordable multi-focal ERG.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817.

  PMID: 11138005 BACKGROUND

MeSH Terms

Conditions

Macular Degeneration; Erythrokeratodermia with ataxia; Stargardt Disease

Interventions

Docosahexaenoic Acids; Dietary Supplements

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Fatty Acids, Omega-3; Dietary Fats, Unsaturated; Dietary Fats; Fats; Lipids; Fatty Acids, Unsaturated; Fatty Acids; Fish Oils; Oils; Food; Diet, Food, and Nutrition; Physiological Phenomena; Food and Beverages

Study Design

• Study Type: interventional
• Phase: phase 1
• Purpose: TREATMENT
• Sponsor Type: NIH

Study Record Dates

• First Submitted: May 9, 2003
• First Posted: May 12, 2003
• Study Start: May 5, 2003
• Study Completion: December 10, 2007
• Last Updated: July 2, 2017

Record last verified: 2007-12-10

Locations

US (1)