444 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
22 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
23 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
24 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:
25 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
26 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
27 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
28 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
29 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
30 Completed Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
Conditions: Atherosclerosis;   Cardiovascular Diseases;   Heart Diseases;   Hypercholesterolemia;   Hyperlipidemia, Familial Combined
Intervention:
31 Not yet recruiting French Observatory of Familial Hypercholesterolemia in Cardiology
Condition: Familial Hypercholesterolemia
Intervention:
32 Completed Effects of Low-density Lipoprotein (LDL) Apheresis on Inflammatory and Lipid Markers
Condition: Familial Hypercholesterolemia
Intervention: Procedure: LDL Apheresis
33 Completed A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Fabrazyme (agalsidase beta)
34 Completed Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 Study
Condition: Fabry Disease
Intervention: Drug: AT1001
35 Completed Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001
36 Completed Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation
Condition: Metachromatic Leukodystrophy
Intervention: Drug: rhARSA
37 Terminated Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy
Condition: Familial Hypercholesterolemia
Intervention: Drug: Implitapide
38 Completed
Has Results
Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease
Condition: Type 1 Gaucher Disease
Intervention: Drug: miglustat
39 Completed Pilot Study of CoolTXT for Non-Invasive Fat Reduction
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
40 Not yet recruiting An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
Condition: Gaucher Disease
Intervention: Drug: PRX-112

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Indicates status has not been verified in more than two years