Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
505 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
Show Display Options
Rank Status Study
21 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 Fish Oil and Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Dietary Supplement: Fish Oil;   Drug: Combination of fish oil and colesevelam
25 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
26 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
27 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
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 Inherited Disorders of Energy Metabolism
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;   Barth Syndrome
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
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 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
35 Completed A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease
Condition: Fabry Disease
Interventions: Drug: Lucerastat;   Drug: Enzyme replacement therapy (ERT)
36 Not yet recruiting Screening for Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Other: There is no intervention in the study
37 Withdrawn Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease
Condition: Fabry Disease
Interventions: Biological: PRX-102;   Other: Placebo
38 Not yet recruiting Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
39 Enrolling by invitation Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy
Condition: Fabry Disease
40 Recruiting Alipogene Tiparvovec for the Treatment of LPLD Patients
Condition: LPL Deficiency
Interventions: Drug: alipogene tiparvovec;   Drug: Prednisolone;   Drug: Cyclosporins;   Drug: Mycophenolate mofetil

First Page    Show previous page of results Previous Page (1-20) Studies Shown (21-40) Next Page (41-60) Show next page of results    Last Page
Indicates status has not been verified in more than two years