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.|
|ClinicalTrials.gov Identifier: NCT00004574|
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
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|
|Study Type :||Observational|
|Enrollment :||1 participants|
|Official Title:||Vitamin Replacement in Abetalipoproteinemia|
|Study Start Date :||February 2000|
|Study Completion Date :||May 2001|
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): NCT00004574
|United States, Maryland|
|National Heart, Lung and Blood Institute (NHLBI)|
|Bethesda, Maryland, United States, 20892|