412 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 Recruiting Biomarker for Farber Disease
Conditions: Farber's Lipogranulomatosis;   Ceramidase Deficiency;   Farber Disease;   Acid Ceramidase Deficiency;   AC Deficiency
Intervention:
2 Unknown  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 (0653-004)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
4 Completed An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
5 Recruiting Natural History Study of Children With Metachromatic Leukodystrophy
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Brain Diseases, Metabolic;   Brain Diseases;   Central Nervous System Diseases;   Nervous System Diseases;   Sulfatidosis;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System;   Leukoencephalopathies;   Demyelinating Diseases;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Lipidoses;   Lipid Metabolism, Inborn Errors;   Lysosomal Storage Diseases;   Metabolic Diseases;   Lipid Metabolism Disorders
Intervention: Other: Natural History Study of Children With Metachromatic Leukodystrophy
6 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
7 Completed Genetic Study of Sitosterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Sitosterolemia
Intervention: Procedure: genetic testing
8 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: ISIS 301012 (mipomersen) sodium;   Drug: placebo;   Drug: ISIS 301012 (mipomersen)   sodium
9 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
10 Unknown  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
11 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
12 Completed Sitosterolemia Extension Study (0653-003)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
13 Completed 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
14 Recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
15 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
16 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
17 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
18 Completed Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
Conditions: Dyskeratosis Congenita;   Fanconi Anemia;   Myelodysplastic Syndromes;   Pearson Marrow-pancreas Syndrome;   Shwachman-diamond Syndrome
Interventions: Genetic: polymerase chain reaction;   Other: flow cytometry;   Other: immunologic technique;   Procedure: biopsy
19 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
20 Recruiting Relationship Between CETP Deficiency and Atherosclerosis in Patients With Hyperalphalipoproteinemia
Conditions: Low CETP Activity;   CETP Deficiency;   Hyperalphalipoproteinemia;   Hyper-LDL-cholesterolemia;   High Level of Remnant Cholesterol
Intervention:

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Indicates status has not been verified in more than two years