Vitamin Replacement in Abetalipoproteinemia - Full Text View

Purpose

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
Abetalipoproteinemia


Study Type:	Observational
Official Title:	Vitamin Replacement in Abetalipoproteinemia

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome Tangier disease abetalipoproteinemia cholesteryl ester storage disease familial hypobetalipoproteinemia retinitis pigmentosa

Genetic and Rare Diseases Information Center resources: Retinitis Pigmentosa Cone-rod Dystrophy Cone-rod Dystrophy 2 Abetalipoproteinemia Familial Hypobetalipoproteinemia Hypolipoproteinemia

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):


Estimated Enrollment:	1
Study Start Date:	February 2000
Estimated Study Completion Date:	May 2001

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.

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

None provided - protocol is intended for one patient only.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004574

Locations


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)

More Information

Publications:

Gotto AM, Levy RI, John K, Fredrickson DS. On the protein defect in abetalipoproteinemia. N Engl J Med. 1971 Apr 15;284(15):813-8.

Ugele B, Kempen HJ, Kempen JM, Gebhardt R, Meijer P, Burger HJ, Princen HM. Heterogeneity of rat liver parenchyma in cholesterol 7 alpha-hydroxylase and bile acid synthesis. Biochem J. 1991 May 15;276 ( Pt 1):73-7.

Ikewaki K, Rader DJ, Zech LA, Brewer HB Jr. In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism. J Lipid Res. 1994 Oct;35(10):1809-19.


ClinicalTrials.gov Identifier:	NCT00004574 History of Changes
Other Study ID Numbers:	000076 00-H-0076
Study First Received:	February 17, 2000
Last Updated:	March 3, 2008
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):


Abetalipoproteinemia Ataxia Retinitis Pigmentosa Vitamin A Vitamin E

Additional relevant MeSH terms:


Abetalipoproteinemia Hypobetalipoproteinemias Hypolipoproteinemias Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Dyslipidemias	Lipid Metabolism Disorders Metabolic Diseases Vitamins Micronutrients Growth Substances Physiological Effects of Drugs

ClinicalTrials.gov processed this record on September 27, 2016