503 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Not yet 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
22 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
23 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
24 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
25 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
26 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
27 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
28 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 Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of
Intervention: Drug: triheptanoin
29 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
30 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
31 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
32 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
33 Not yet recruiting Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: arimoclomol;   Drug: Placebo
34 Recruiting SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease
Condition: Gaucher Disease
35 Recruiting Compare Pharmacokinetic(PK) Profiles of XZK vs Lovastatin in Healthy Male Volunteers
Condition: Lipid Metabolism Disorder
Interventions: Drug: XueZhiKang;   Drug: Lovastatin
36 Not yet recruiting Trial to Evaluate the Effect of ALN-PCSSC Treatment on Low Density Lipoprotein Cholesterol (LDL-C)
Conditions: Atherosclerotic Cardiovascular Disease;   Familial Hypercholesterolemia;   Diabetes
Intervention: Drug: ALN-PCSSC
37 Recruiting Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
Condition: Gaucher Disease Type 1
Intervention: Drug: N-acetylcysteine
38 Enrolling by invitation Fabry's Disease and Pregnancy (PREFAB)
Conditions: Fabry's Disease;   Pregnancy
Intervention: Other: Questionnaire
39 Not yet recruiting This Study is to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years
Condition: Type 1 Gaucher Disease
Intervention: Drug: Velaglucerase alfa
40 Recruiting Metabolic Complications Following Knee Injury in Young and Middle Aged Patients
Conditions: Glucose Metabolism Disorders;   Lipid Metabolism Disorders;   Sedentary Lifestyle
Interventions: Biological: Blood and Urine sampling;   Radiation: DXA scan;   Biological: OGTT

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Indicates status has not been verified in more than two years