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Vitamin Replacement in Abetalipoproteinemia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004574
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients. Abetalipoproteinemia is an inherited metabolic defect that prevents fat-soluble vitamins, such as A and E, from being absorbed from the intestines into the bloodstream and from being secreted by the liver. The deficiencies of vitamins A and E can result in severe vision impairment and a gait disorder. Treatment with megadoses of these vitamins, taken by mouth, may delay or arrest symptoms, but many continue to progress.

For this study, a single patient with moderately severe eye and neurological defects will be given essential fatty acids and fat soluble vitamins directly through a vein (intravenously) using FDA-approved replacements with a fat emulsion and multivitamins containing fat-soluble vitamins. This route of administration will bypass the digestive tract, where the absorption problem occurs. The infusions will be given twice a week for one month and then weekly for another month. Blood tests will be done weekly to measure blood lipids (fatty acids and other substances), cell counts, and vitamin levels. Eye and neurological examinations will be done once a month.

Condition or disease

Detailed Description:
Fat-soluble vitamins are normally absorbed from the diet through the gastrointestinal tract and incorporated into fat-rich particles called chylomicrons made in the intestinal wall. Chylomicrons are secreted by the intestine into the bloodstream. In a rare lipid metabolic disorder called abetalipoproteinemia, a defect in the assembly of the fat and vitamin containing particles prevents the formation of chylomicrons resulting in the malabsorption of fat and fat-soluble vitamins. A similar assembly defect of fat and fat-soluble vitamins occurs in the liver and prevents the secretion of these particles. Severe fat-soluble vitamin deficiency results even despite mega doses of oral fat-soluble vitamins. Clinically, the subjects develop neurologic and ophthalmologic symptoms similar to those in Vitamin A and E deficiency. This study is designed to determine whether short-term intravenous fat-soluble vitamins and fat emulsion can reverse the neurologic and ophthalmologic complications of fat-soluble vitamin deficiency based on noninvasive procedures routinely employed in clinical practice.

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Study Type : Observational
Enrollment : 1 participants
Official Title: Vitamin Replacement in Abetalipoproteinemia
Study Start Date : February 2000
Study Completion Date : May 2001

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
None provided - protocol is intended for one patient only.

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 identifier (NCT number): NCT00004574

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United States, Maryland
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Layout table for additonal information Identifier: NCT00004574    
Other Study ID Numbers: 000076
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: December 1999
Keywords provided by National Institutes of Health Clinical Center (CC):
Retinitis Pigmentosa
Vitamin A
Vitamin E
Additional relevant MeSH terms:
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Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases