489 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
Intervention:
23 Active, not recruiting 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
Intervention:
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
Intervention:
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 Study of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) to Treat Niemann-Pick Type C1 (NPC1) Disease
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: HP-β-CD;   Drug: Sham Procedure Control
34 Completed Conjugated Linoleic Acid in Obese Women
Conditions: Lipid Metabolism Disorders;   Obesity
Interventions: Dietary Supplement: CLA;   Behavioral: Placebo
35 Recruiting The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
Conditions: Gaucher Disease Type 1;   Gaucher Disease Type 3
Intervention: Drug: Velaglucerase alfa
36 Recruiting Miglustat on Gaucher Disease Type IIIB
Condition: Gaucher Disease
Interventions: Drug: Miglustat;   Drug: ERT
37 Recruiting MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)
Condition: Familial Hypercholesterolemia - Heterozygous
Intervention:
38 Recruiting Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: GZ/SAR402671
39 Recruiting Atherosclerosis in Familial Hypercholesterolemia
Condition: Familial Hypercholesterolemia
Intervention: Other: CT coronary angiogram and carotid ultrasound
40 Active, not recruiting A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
Conditions: Jansky-Bielschowsky Disease;   Batten Disease;   Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;   CLN2 Disease;   CLN2 Disorder
Intervention: Biological: BMN 190

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Indicates status has not been verified in more than two years