459 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 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
22 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
23 Completed A 52-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05245)
Conditions: Hypercholesterolemia;   Familial Hypercholesterolemia;   Homozygous Sitosterolemia
Interventions: Drug: Ezetimibe;   Drug: Ezetimibe + other lipid-lowering medication(s)
24 Completed SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia
Condition: Lipoidosis
Intervention: Drug: SCH-58235
25 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
26 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:
27 Completed The Effect of Dietary Sitosterol on Blood Sugar and Cholesterol
Condition: Sitosterolemia
Intervention: Behavioral: High/Low Sitosterol
28 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
29 Completed A 12-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05244)
Conditions: Hypercholesterolemia;   Familial Hypercholesterolemia;   Homozygous Sitosterolemia
Interventions: Drug: Ezetimibe;   Drug: Ezetimibe + other lipid-lowering medication(s)
30 Completed Cholesterol Metabolism in Heterozygous Phytosterolemia
Condition: Cardiovascular Disease
Intervention: Dietary Supplement: phytosterol ester
31 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
32 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
33 Unknown  Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
Conditions: Dyskeratosis Congenita;   Fanconi Anemia;   Myelodysplastic Syndromes;   Nonmalignant Neoplasm;   Pearson Marrow-pancreas Syndrome;   Shwachman-diamond Syndrome
Interventions: Genetic: polymerase chain reaction;   Other: flow cytometry;   Other: immunologic technique;   Procedure: biopsy
34 Recruiting Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
Condition: Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Intervention: Drug: Ravicti
35 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
36 Completed Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia
Conditions: Heart Diseases;   Metabolism, Inborn Errors
Interventions: Drug: SCH-58235;   Drug: Ezetimibe
37 Not yet recruiting Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ISIS-APO(a)Rx in Patients With High Lipoprotein(a)
Condition: LIPOPROTEIN(a) DEFICIENCY, CONGENITAL
Interventions: Drug: ISIS-APO(a)Rx;   Drug: Placebo
38 Unknown  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:
39 Completed A Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
40 Completed Lipid Efficacy and Safety in Patients With Mixed Hyperlipidemia (MK-0524B-024)
Condition: Mixed Hyperlipidemia
Interventions: Drug: Comparator: MK0524B;   Drug: Comparator: Atorvastatin

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Indicates status has not been verified in more than two years