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Gyrate Atrophy of the Choroid and Retina

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ClinicalTrials.gov Identifier: NCT00001166
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

Gyrate atrophy is a rare hereditary disease of the eye's retina (the layer of light-sensitive tissue that lines the inside of the eyeball) and choroid (a vascular layer of tissue behind the retina). Degeneration of these structures causes near-sightedness, cataracts and progressive loss of vision. This study will examine eye function and chemical and molecular abnormalities in patients with gyrate atrophy to try to better understand, diagnose, and treat the condition. Patients with other degenerative diseases of the choroid and retina, such as retinitis pigmentosa, choroideremia, and others, will also be studied for comparison. Family members of patients will be studied, when possible, to try to identify the genetic basis of the disease and gain information that will aid in genetic counseling.

Study participants will undergo a physical examination and eye examination, including tests of color vision, field of vision, and ability to see in the dark. An electroretinogram and electrooculogram will measure visual cell function. Photographs of the retina will be taken. Blood will be drawn for biochemical study and gene research. Family members who agree to participate in the study will undergo the same eye tests and will also have blood drawn for genetic studies. Patients with gyrate atrophy will also be asked to undergo a small skin biopsy for biochemical and genetic study. They will provide a family history in order to draw a family tree showing how the disease is distributed among family members.

Patients with gyrate atrophy may also participate in studies of the effect of vitamin B6 and diet on blood levels of the amino acid ornithine, which is elevated in patients with gyrate atrophy. Participants will take 500 mg of vitamin B6 by mouth every day for 3 to 6 months. If this study confirms a reduction of ornithine levels, then long-term studies of the vitamin as a possible treatment for the disease may be started.

After the vitamin B6 study, patients will start a nearly protein-free diet to lower ornithine blood levels. More than 2,000 calories are carbohydrate and fat. Some special low-protein foods and limited fruit is included, plus amino acid supplements. Patients who have carefully adhered to this diet have lowered their ornithine levels and slowed disease progression. Patients will be hospitalized for the first 1 to 3 weeks for close monitoring with frequent urine and blood tests. When the blood ornithine level is normalized, a less restricted low protein diet will be prescribed. Participants will have monthly blood tests and a complete eye examination every 6 months to 1 year to evaluate disease progression.

Condition or disease
Gyrate Atrophy

Detailed Description:

Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive chorioretinal degeneration characterized by myopia, cataract, varying degrees of night blindness, and progressive constriction of visual fields associated with chorioretinal atrophy resulting in blindness. The objectives of this protocol are threefold:

  1. Document the natural history of gyrate atrophy.
  2. Relate the clinical course to the gene defect to explore the genetic heterogeneity inherent in this disease.
  3. Assess the clinical course and laboratory findings of the effects of an arginine-deficient diet. The study population is patients with elevated plasma ornithine and absence of ornithine-delta-aminotransferase activity. This is a natural history study, with a nested intervention study, non-randomized, with the outcome parameters being psychophysical, electrophysiological and ophthalmoscopic examination.

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Study Type : Observational
Enrollment : 65 participants
Official Title: The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina
Study Start Date : January 1978
Study Completion Date : March 2004

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


Patients must have hyperornithemia and a deficiency of OAT activity to enter the study.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001166

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United States, Maryland
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Eye Institute (NEI)
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ClinicalTrials.gov Identifier: NCT00001166    
Other Study ID Numbers: 780001
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: March 2004
Keywords provided by National Institutes of Health Clinical Center (CC):
Ornithine-Aminotransferase (OAT)
Tissue Culture
Pyridoxine Hydrochloride
Pyridoxal Phosphate
Skin Fibroblast
Gyrate Atrophy
Autosomal Recessive Retinitis Pigmentosa
Bietti's Crystalline Retinopathy
Chorioretinal Degeneration
Additional relevant MeSH terms:
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Gyrate Atrophy
Pathological Conditions, Anatomical
Eye Diseases, Hereditary
Eye Diseases
Choroid Diseases
Uveal Diseases
Genetic Diseases, Inborn