- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00004574
Vitamin Replacement in Abetalipoproteinemia
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.
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- National Heart, Lung and Blood Institute (NHLBI)
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Study Plan
How is the study designed?
Collaborators and Investigators
Publications and helpful links
General 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. doi: 10.1056/NEJM197104152841503. No abstract available.
- 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)(Pt 1):73-7. doi: 10.1042/bj2760073.
- 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.
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 000076
- 00-H-0076
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