475 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
22 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
23 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:
24 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
25 Completed The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
Condition: Neutral Lipid Storage Disease
Intervention: Drug: Fibrate treatment
26 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
27 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
28 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
29 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
30 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
31 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
32 Completed Detection of Familial Hypercholesterolaemia in Cardiovascular Disease Registry
Conditions: Familial Hypercholesterolemia;   Cardiac Event;   Percutaneous Coronary Intervention
Intervention:
33 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
34 Completed Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Drug: ISU302
35 Recruiting Orlistat for the Treatment of Type I Hyperlipoproteinemia
Conditions: Hyperlipoproteinemia Type I;   Hypertriglyceridemia
Intervention: Drug: Orlistat
36 Not yet recruiting Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy
Condition: Homozygous Familial Hypercholesterolemia
Intervention: Drug: Lomitapide
37 Not yet recruiting Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany
Conditions: Type 1 Diabetes;   Familial Hypercholesterolemia
Intervention:
38 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
39 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
40 Recruiting Batten CLN6 Gene Therapy
Conditions: Batten Disease;   CLN6
Intervention: Drug: scAVV9.CB.CLN6

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Indicates status has not been verified in more than two years