Protocol Number: 03-EI-0179

Title:

Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects with Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy

Number:

03-EI-0179

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.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

To be eligible to enroll in this study, a prospective participant must satisfy the following inclusion criteria.

1. Understand and sign the informed consent.

2. 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):

3. Have a pattern of inheritance that indicates autosomal recessive inheritance.

4. 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):

5. Have a pattern of inheritance that indicates autosomal dominant inheritance.

6. 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.

EXCLUSION CRITERIA:

To be eligible to enroll in this study, a prospective participant must not satisfy any of the following exclusion criteria.

1. Have a non-recordable multi-focal ERG.

Special Instructions: Currently Not Provided

Keywords:

Stargardt

Macular Dystrophy

ELOVL4

DHA

Stargardt's Disease

Autosomal Dominant Macular Dystrophy

Autosomal Recessive Macular Dystrophy

Recruitment Keywords:

Stargardt's Disease

Autosomal Dominant Macular Dystrophy

Autosomal Recessive Macular Dystrophy

Conditions:

Macular Degeneration

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Birch EE, Hoffman DR, Uauy R, Birch DG, Prestidge C. Visual acuity and the essentiality of docosahexaenoic acid and arachidonic acid in the diet of term infants. Pediatr Res. 1998 Aug;44(2):201-9. PMID: 9702915

Cho E, Hung S, Willett WC, Spiegelman D, Rimm EB, Seddon JM, Colditz GA, Hankinson SE. Prospective study of dietary fat and the risk of age-related macular degeneration. Am J Clin Nutr. 2001 Feb;73(2):209-18. PMID: 11157315

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. PMID: 11138005

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