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8 studies found for:    "familial hypobetalipoproteinemia" OR "Hypobetalipoproteinemias"
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Study Details
Participant Details
Rank Status Study
1 Recruiting Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia
Condition: Hypobetalipoproteinemia
Intervention: Other: Hypobetalipoproteinemia diagnosis (LDL-C ≤ 50 mg/dL without hypolipidemic treatment)
2 Completed 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
3 Recruiting HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism
Condition: Hypobetalipoproteinemia
Intervention: Genetic: hypobetalipoproteinemia genetic and genotypic screening
4 Completed Mechanisms of Low Levels of Apolipoprotein B
Conditions: Cardiovascular Diseases;   Heart Diseases;   Hypobetalipoproteinemia
5 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
6 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
7 Completed Vitamin Replacement in Abetalipoproteinemia
Condition: Abetalipoproteinemia
8 Recruiting Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
Conditions: Abetalipoproteinemia;   Atherosclerosis;   Healthy;   Inborn Errors Lipid Metabolism

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