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356 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"

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Rank Status Study
1 Completed The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
Condition: Neutral Lipid Storage Disease
Intervention: Drug: Fibrate treatment
2 Recruiting Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Conditions: Mevalonic Aciduria;   Mevalonate Kinase Deficiency;   Immune System Diseases;   Periodic Fever Syndromes, Hereditary;   Lipid Metabolism, Inborn Errors
Intervention:
3 Completed Sitosterolemia Extension Study (0653-003)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
4 Active, not recruiting An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Intervention: Drug: mipomersen sodium
5 Completed Sitosterolemia Extension Study (0653-004)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
6 Recruiting Mendelian Reverse Cholesterol Transport Study
Conditions: Cholesterol, HDL;   Lipid Metabolism, Inborn Errors;   Tangier Disease;   LCAT Deficiency;   CETP Deficiency
Intervention: Drug: 3H-cholesterol bound to albumin
7 Terminated Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
Conditions: Hypercholesterolemia, Familial;   Lipid Metabolism, Inborn Errors
Intervention: Drug: Comparator: ezetimibe
8 Completed
Has Results 		Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Interventions: Drug: mipomersen;   Drug: Placebo
9 Completed 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: ISIS 301012 (mipomersen) sodium;   Drug: Placebo;   Drug: placebo
10 Completed Genetic Study of Sitosterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Sitosterolemia
Intervention: Procedure: genetic testing
11 Completed
Has Results 		Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Hypercholesterolemia, Autosomal Dominant;   Hyperlipidemias;   Metabolic Diseases;   Hyperlipoproteinemia Type II;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Infant, Newborn, Diseases;   Metabolic Disorder;   Congenital Abnormalities;   Hypercholesterolemia;   Hyperlipoproteinemias;   Dyslipidemias;   Lipid Metabolism Disorders
Intervention: Drug: mipomersen sodium
12 Completed An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
13 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
14 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
15 Recruiting Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman Disease
Conditions: Lysosomal Acid Lipase Deficiency;   Wolman Disease
Intervention: Drug: Sebelipase alfa (SBC-102)
16 Terminated Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102
Conditions: Lysosomal Acid Lipase Deficiency;   Wolman Disease
Intervention: Drug: SBC-102
17 Recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
18 Completed A 52-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05245)(COMPLETED)
Conditions: Hypercholesterolemia;   Familial Hypercholesterolemia;   Homozygous Sitosterolemia
Interventions: Drug: Ezetimibe;   Drug: Ezetimibe + other lipid-lowering medication(s)
19 Completed SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia
Condition: Lipoidosis
Intervention: Drug: SCH-58235
20 Completed The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol
Condition: Sitosterolemia
Intervention: Behavioral: High/Low Sitosterol
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† Indicates status has not been verified in more than two years