7 studies found for:    "familial hypobetalipoproteinemia" OR "Hypobetalipoproteinemias"
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Rank Status Study
1 Active, not recruiting Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention
Condition: Hypobetalipoproteinemias
Interventions: Drug: Tocofersolan;   Drug: tocopherol alpha;   Drug: Tocofersolan and tocopherol alpha
2 Not yet recruiting HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism
Condition: Hypobetalipoproteinemia
Intervention: Genetic: hypobetalipoproteinemia genetic and genotypic screening
3 Completed Mechanisms of Low Levels of Apolipoprotein B
Conditions: Cardiovascular Diseases;   Heart Diseases;   Hypobetalipoproteinemia
4 Completed
Has Results
Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
Conditions: Lipid Metabolism, Inborn Errors;   Hyperlipidemias;   Metabolic Diseases;   Hypolipoproteinemia;   Hypolipoproteinemias;   Hypobetalipoproteinemias;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Congenital Abnormalities;   Metabolic Disorder;   Hypercholesterolemia;   Dyslipidemias;   Lipid Metabolism Disorders
Interventions: Drug: mipomersen;   Drug: Placebo
5 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
6 Completed Vitamin Replacement in Abetalipoproteinemia
Condition: Abetalipoproteinemia
7 Recruiting Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
Conditions: Abetalipoproteinemia;   Atherosclerosis;   Healthy;   Inborn Errors Lipid Metabolism

Indicates status has not been verified in more than two years