488 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
Show Display Options
RSS Create an RSS feed from your search for:
"lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
Need help? See RSS Feeds
Choose a feed type:
Show studies that were first received in the last 14 daysShow studies that were first received in the last 14 days
Show studies added or modified in the last 14 daysShow studies that were added or modified in the last 14 days
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 Not yet recruiting Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases
Condition: Lipid Metabolism, Inborn Errors
Intervention: Biological: Anti-oxLDL IgM antibody
4 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
5 Recruiting Mendelian Reverse Cholesterol Transport Study
Conditions: Cholesterol, HDL;   Lipid Metabolism, Inborn Errors;   Tangier Disease;   LCAT Deficiency;   Cholesteryl Ester Transfer Protein (CETP) Deficiency
Intervention: Drug: 3H-cholesterol bound to albumin
6 Completed
Has Results
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
7 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
8 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
9 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
10 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
11 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
12 Completed Sitosterolemia Extension Study (0653-004)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
13 Completed Sitosterolemia Extension Study (0653-003)(COMPLETED)
Conditions: Lipid Metabolism, Inborn Errors;   Heart Disease
Interventions: Drug: MK0653, ezetimibe;   Drug: Comparator: placebo
14 Completed Genetic Study of Sitosterolemia
Conditions: Lipid Metabolism, Inborn Errors;   Sitosterolemia
Intervention: Procedure: genetic testing
15 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
16 Active, not recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
17 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
18 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
19 Recruiting Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
Conditions: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV);   Neutral Lipid Storage Disease With Myopathy (NLSD-M)
Intervention: Dietary Supplement: CNT-02
20 Recruiting Fatty Acid Oxidation Defects and Insulin Sensitivity
Conditions: Very Long-chain Acyl-CoA Dehydrogenase Deficiency;   Trifunctional Protein Deficiency;   Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Normal Volunteers
Interventions: Drug: Intralipid/Heparin;   Drug: Glycerol/Saline;   Drug: Hyperinsulinemic euglycemic clamp

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years