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Abetalipoproteinemia clinical trials

View clinical trials related to Abetalipoproteinemia.

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NCT ID: NCT02435940 Recruiting - Clinical trials for Retinitis Pigmentosa

Inherited Retinal Degenerative Disease Registry

Start date: June 2014
Phase: N/A
Study type: Observational [Patient Registry]

My Retina Tracker® is a registry for people affected by an inherited retinal degenerative disease. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals and genetically related, unaffected, family members who create entries are guided to create a profile that captures the participants' perspective on their disease and its progress; family history; genetic testing results; preventive measures; and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals are: to better understand the heterogeneity of the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene mutations; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a mechanism that facilitates more rapid recruitment for research studies and clinical trials.

NCT ID: NCT00004574 Completed - Clinical trials for Abetalipoproteinemia

Vitamin Replacement in Abetalipoproteinemia

Start date: February 2000
Phase: N/A
Study type: Observational

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.

NCT ID: NCT00001154 Recruiting - Healthy Clinical Trials

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins

Start date: March 3, 1976
Phase: N/A
Study type: Observational

Researchers plan to study the fat-rich particles, called lipoproteins, which circulate in the blood. This study is designed to improve understanding of normal, as well as abnormal, lipoprotein metabolism and the role it plays in the development of hardening of the arteries (atherosclerosis). Patients participating in this study will receive injections of lipoproteins or apolipoproteins (the protein component of lipoproteins) that have been isolated and purified. These lipoproteins will be labeled with small amounts of radioactive material and sterilized before they are injected into the patient. Patients participating in the study will be required to have blood samples taken, and provide urine samples throughout the course of the study. In addition, patient will be required to follow a specially formulated diet. Patients will be weighed throughout the course of the study.