Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
464 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 Completed High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
Conditions: Very Long-chain Acyl-CoA Dehydrogenase Deficiency;   Trifunctional Protein Deficiency;   Carnitine Palmitoyltransferase 2 Deficiency;   Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Intervention: Behavioral: Diet counseling
22 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
23 Available Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency, Type B;   Acyl-coA Dehydrogenase, Type 9
Intervention: Drug: triheptanoin
24 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
25 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
26 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
27 Terminated Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy
Conditions: Peripheral Neuropathy;   Mitochondrial Trifunctional Protein Deficiency
Intervention: Dietary Supplement: Vitamin E supplement
28 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:
29 Completed Mechanisms of Low Levels of Apolipoprotein B
Conditions: Cardiovascular Diseases;   Heart Diseases;   Hypobetalipoproteinemia
Intervention:
30 Completed A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients
Conditions: Gaucher Disease;   Type 1 Gaucher Disease;   Gaucher Disease, Type 1
Intervention: Drug: AT2101
31 Recruiting Nervous System Degeneration in Glycosphingolipid Storage Disorders
Conditions: Gangliosidoses;   Gaucher Disease
Intervention:
32 Unknown  DARK STUDY "DysbetalipoproteinemiA and atheRoma Risk"
Condition: Dysbetalipoproteinemia
Intervention:
33 Active, not recruiting Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
Condition: Krabbe Disease
Intervention:
34 Completed A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication
Condition: Familial Hypercholesterolemia
Interventions: Drug: Colesevelam hydrochloride film-coated tablets;   Drug: Placebo
35 Completed OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: OGT 918
36 Completed
Has Results
Evaluation of the Safety, Tolerability and Efficacy of Ezetimibe on a Select Population of Filipinos With Hypercholesterolemia (Study P04748)(COMPLETED)
Conditions: Primary Hypercholesterolemia;   Homozygous Familial Hypercholesterolemia
Intervention: Drug: Ezetimibe
37 Completed Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Conditions: Hyperlipidemia, Familial Combined;   Coronary Disease
Intervention:
38 Recruiting Genes Involved in Lipid Disorders
Condition: Dyslipidemia
Intervention:
39 Recruiting Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: 2-hydroxypropyl-beta-cyclodextrin
40 Recruiting Investigating Lysosomal Storage Diseases in Minority Groups
Conditions: Lysosomal Storage Disorders;   Gaucher Disease;   Fabry Disease;   Pompe Disease;   Niemann-Pick Disease
Intervention:

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Indicates status has not been verified in more than two years