List Results
Refine Search
Results by Topic
Results on Map
Search Details
Found 186 studies with search of: "lipid metabolism, inborn errors" OR "primary carnitine deficiency"
Hide studies that are not seeking new volunteers.
  Display Options
Rank Status Study
1 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:
2 Completed Sitosterolemia Extension Study
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
3 Enrolling by invitation An Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of ISIS 301012 in Subjects With 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
4 Completed Sitosterolemia Extension Study
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
5 Active, not recruiting Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia
Conditions: Hypercholesterolemia, Familial;   Lipid Metabolism, Inborn Errors
Intervention: Drug: MK0653, ezetimibe / Duration of Treatment: 3 years
6 Completed Study to Assess the Safety and Efficacy of ISIS 301012 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 sodium;   Drug: Placebo
7 Recruiting Measure Liver Fat Content After ISIS 301012 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 sodium;   Drug: Placebo;   Drug: mipomersen sodium;   Drug: placebo;   Drug: mipomersen sodium;   Drug: placebo
8 Completed Genetic Study of Sitosterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Sitosterolemia
Intervention: Procedure: genetic testing
9 Active, not recruiting Open Label Extension of ISIS 301012 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
Interventions: Drug: mipomersen sodium;   Drug: mipomersen sodium
10 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
11 Active, not recruiting Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
Conditions: I Cell Disease;   Fucosidosis;   Globoid Cell Leukodystrophy;   Adrenoleukodystrophy;   Mannosidosis;   Niemann-Pick Disease;   Pulmonary Complications;   Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Metachromatic Leukodystrophy;   Gaucher's Disease;   Wolman Disease
Intervention:
12 Completed A Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
13 Recruiting Lipid Efficacy and Safety in Patients With Mixed Hyperlipidemia
Condition: Mixed Hyperlipemia
Interventions: Drug: MK0524B;   Drug: Atorvastatin
14 Recruiting Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Condition: Lipoidosis
Intervention:
15 Completed Effects of Ezetimibe With Simvastatin in the Therapy of Adolescents With Heterozygous Familial Hypercholesterolemia (Study P02579AM)(COMPLETED)
Condition: Hypercholesterolemia
Intervention: Drug: ezetimibe
16 Completed 48-wk Open Label Phase IIIb to Evaluate Efficacy and Safety
Condition: Dyslipidaemia
Interventions: Drug: Rosuvastatin;   Behavioral: Maintenance of specific diet
17 Not yet recruiting A Study of Genz-112638 in Patients With Gaucher Disease
Condition: Gaucher Disease Type 1
Interventions: Drug: Genz-112638;   Drug: Placebo
18 Active, not recruiting Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
Conditions: Atherosclerosis;   Hypercholesterolemia
Intervention:
19 Completed Stem Cell Transplant for Inborn Errors of Metabolism
Conditions: Adrenoleukodystrophy;   Metachromatic Leukodystrophy;   Globoid Cell Leukodystrophy;   Gaucher's Disease;   Fucosidosis;   Wolman Disease;   Niemann-Pick Disease;   Batten Disease;   GM1 Gangliosidosis;   Tay Sachs Disease;   Sandhoff Disease
Interventions: Procedure: Stem Cell Transplant;   Drug: Busulfan, Cyclophosphamide, ATG
20 Completed Type III Dysbetalipoproteinemia
Condition: Hyperlipoproteinemia Type III
Interventions: Drug: Rosuvastatin 10mg;   Drug: rosuvastatin 20mg;   Drug: pravastatin 40mg

Previous Page Studies Shown (1-20) Next Page (21-40)
Save this search by bookmarking this page.
When you use your bookmark, the search will be performed again on the most recent collection of studies.
  RSS Feed for studies found by your search that were received in the last 14 days
  Download Options




U.S. National Library of Medicine,  Contact Help Desk
U.S. National Institutes of Health,  U.S. Department of Health & Human Services,
USA.gov,  Copyright,  Privacy,  Accessibility,  Freedom of Information Act

U.S. National Institutes of Health U.S. National Library of Medicine U.S. Department of Health & Human Services