Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
408 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 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, Type B;   Acyl-coA Dehydrogenase, Type 9
Intervention: Drug: triheptanoin
22 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
23 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
24 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
25 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
26 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:
27 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
28 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
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 Recruiting Clinical and Neuropsychological Investigations in Batten Disease
Condition: Neuronal Ceroid Lipofuscinosis
Intervention:
31 Recruiting Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Conditions: Batten Disease;   Late Infantile Neuronal Lipofuscinosis
Intervention:
32 Terminated
Has Results
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
Conditions: Fabry Disease;   Severe Renal Disease
Intervention: Biological: Fabrazyme (agalsidase beta)
33 Recruiting Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Condition: Fabry Disease
Intervention:
34 Completed A Pharmacokinetic and Pharmacodynamic Study of PF-04950615 in Subjects With Hypercholesterolemia
Conditions: Hypercholesterolemia;   Dyslipidemias;   Hyperlipidemias;   Lipid Metabolism Disorders;   Metabolic Diseases
Intervention: Biological: PF-04950615
35 Enrolling by invitation Gene Therapy for Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: Autologous CD34+ stem cells transduced with ARSA encoding lentiviral vector
36 Completed A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)
Condition: Fabry Disease
Intervention: Drug: [14C] AT1001
37 Completed Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease
Condition: Type 2 Gaucher Disease
Intervention:
38 Completed Gene Therapy for Tay-Sachs Disease
Conditions: Tay Sachs Disease;   Sandhoff Disease;   Late Onset Tay Sachs Disease
Intervention:
39 Completed A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
Conditions: Lysosomal Acid Lipase Deficiency;   Wolman Disease
Intervention:
40 Completed A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.
Condition: Fabry Disease
Intervention: Drug: Agalsidase beta (recombinant form)

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Indicates status has not been verified in more than two years