Vitamin Replacement in Abetalipoproteinemia

NCT00004574 | Completed

• 2 other identifiers: 00007600-H-0076
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

Abetalipoproteinemia

Keywords

Abetalipoproteinemia; Ataxia; Retinitis Pigmentosa; Vitamin A; Vitamin E

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

None provided - protocol is intended for one patient only.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Heart, Lung and Blood Institute (NHLBI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 5549803 BACKGROUND

• 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.

  PMID: 2039484 BACKGROUND

• 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.

  PMID: 7852858 BACKGROUND

MeSH Terms

Conditions

Abetalipoproteinemia; Ataxia; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Hypobetalipoproteinemias; Hypolipoproteinemias; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: February 17, 2000
• First Posted: December 10, 2002
• Study Start: February 1, 2000
• Study Completion: May 1, 2001
• Last Updated: March 4, 2008

Record last verified: 1999-12

Locations

US (1)