486 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
22 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
23 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
24 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:
25 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
26 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
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 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
34 Recruiting Long Term Post Marketing Specified Drug Use Result Survey for Evolocumab in Japan
Conditions: Hypercholesterolemia;   Familial Hypercholesterolemia
Intervention: Other: No intervention
35 Recruiting Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Lentivirus Alpha-gal A transduced stem cells
36 Recruiting Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Condition: Fabry's Disease
Interventions: Device: Smartpill;   Procedure: Endoscopic Mucosal Resection and Sigmoidoscopy
37 Recruiting Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function
Condition: Fabry Disease
Interventions: Biological: PRX-102;   Biological: Agalsidase beta
38 Recruiting Genzyme Osteopenia/Osteoporosis Study
Condition: Gaucher Disease
Intervention: Other: Gaucher disease DNA mutation analysis
39 Completed Detection of Familial Hypercholesterolaemia in Cardiovascular Disease Registry
Conditions: Familial Hypercholesterolemia;   Cardiac Event;   Percutaneous Coronary Intervention
Intervention:
40 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:

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Indicates status has not been verified in more than two years