476 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 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
22 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
23 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:
24 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
25 Completed Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
Conditions: Dyskeratosis Congenita;   Fanconi Anemia;   Myelodysplastic Syndromes;   Pearson Marrow-pancreas Syndrome;   Shwachman-diamond Syndrome
Interventions: Genetic: polymerase chain reaction;   Other: flow cytometry;   Other: immunologic technique;   Procedure: biopsy
26 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
27 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
28 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
29 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
30 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
31 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
32 Completed A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers
Condition: Fabry Disease
Interventions: Drug: IV migalastat HCl;   Drug: IV placebo;   Drug: oral migalastat HCl
33 Completed
Has Results
An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Biological: VPRIV®
34 Recruiting Biomarker for Metachromatic Leukodystrophy Disease
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System
Intervention:
35 Completed A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
36 Completed A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
Condition: Gaucher Disease
Interventions: Drug: ISU302;   Drug: Placebo
37 Completed Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Drug: Warfarin
38 Recruiting Screening for Fabry Disease in a Pediatric Population at Risk
Conditions: Chronic Pain in the Extremities;   Chronic Abdominal Pain;   Fabry Disease
Intervention: Other: Screening for Fabry disease
39 Recruiting Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Imiglucérase (drug) pharmacokinetics
40 Completed Effects of Enzyme Replacement in Gaucher's Disease
Condition: Gaucher's Disease
Intervention:

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Indicates status has not been verified in more than two years