470 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Active, not recruiting
Has Results
Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman Disease
Conditions: Lysosomal Acid Lipase Deficiency;   Wolman Disease
Intervention: Drug: Sebelipase alfa (SBC-102)
22 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
23 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
24 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
25 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
26 Unknown  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 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
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 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
30 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
31 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
32 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
33 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
34 Not yet recruiting Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany
Conditions: Type 1 Diabetes;   Familial Hypercholesterolemia
Intervention:
35 Not yet recruiting A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)
Conditions: Hypercholesterolemia;   Familial Hypercholesterolemia
Interventions: Drug: Ezetimibe;   Drug: Rosuvastatin
36 Recruiting Postprandial Response After Intake of Meals With Different Fatty Acid Composition
Conditions: Healthy;   Familial Hypercholesterolemia
Interventions: Dietary Supplement: SFA muffin;   Dietary Supplement: PUFA muffin
37 Recruiting Batten CLN6 Gene Therapy
Conditions: Batten Disease;   CLN6
Intervention: Drug: scAVV9.CB.CLN6
38 Not yet recruiting Efficacy and Safety of Gemcabene in Patients With Homozygous Familial Hypercholesterolemia on Stable, Lipid-Lowering Therapy (COBALT-1)
Condition: Hypercholesteremia
Interventions: Drug: Gemcabene 300 mg;   Drug: Gemcabene 600 mg;   Drug: Gemcabene 900 mg
39 Not yet recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
40 Not yet recruiting Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
Conditions: Globoid Cell Leukodystrophy;   Hurler Syndrome;   Metachromatic Leukodystrophy (MLD);   Cerebral X-linked Adrenoleukodystrophy;   Krabbe Disease
Intervention: Drug: Umbilical cord blood transplantation with HSC835

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Indicates status has not been verified in more than two years