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509 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
22 Completed Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
Conditions: Carnitine Palmitoyltransferase II Deficiency;   Very Long Chain Acyl Coa Dehydrogenase Deficiency
Interventions: Drug: Bezafibrate;   Other: Placebo
23 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
24 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:
25 Active, not recruiting Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
26 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
27 Active, not recruiting
Has Results
SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa
Conditions: Lysosomal Acid Lipase Deficiency;   Wolman Disease
Intervention: Drug: Sebelipase alfa (SBC-102)
28 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
29 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
30 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
31 Completed Evaluation of Antioxidant Activity of Oral Lutein in Preterm and Term Newborn
Conditions: Infant, Newborn, Diseases;   Other Lipid Storage Disorders
Interventions: Dietary Supplement: Lutein drops;   Dietary Supplement: Glucose drops
32 Unknown  Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis
Condition: Cerebrotendinous Xanthomatosis (CTX)
Intervention: Biological: Blood tests
33 Unknown  Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia
Condition: Dyslipidemia
Interventions: Drug: High-dose rosuvastatin;   Drug: Statin plus fenofibrate;   Drug: Statin plus niacin ER/laropiprant
34 Completed Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care
Conditions: Hyperlipidemia;   Mixed Hyperlipidemia;   Dyslipidemia
Intervention: Drug: Niacin Extended Release/Lovastatin
35 Withdrawn Cholestanol in Humans
Condition: Cerebrotendinous Xanthomatosis
Intervention: Drug: Chenodeoxycholic Acid
36 Unknown  Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis
Condition: Cerebrotendinous Xanthomatosis
Interventions: Drug: chenodeoxycholic acid;   Drug: lovastatin
37 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
38 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
39 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
40 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

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Study has passed its completion date and status has not been verified in more than two years.