440 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
22 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
23 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
24 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
25 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:
26 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
27 Unknown  Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
Conditions: Dyskeratosis Congenita;   Fanconi Anemia;   Myelodysplastic Syndromes;   Nonmalignant Neoplasm;   Pearson Marrow-pancreas Syndrome;   Shwachman-diamond Syndrome
Interventions: Genetic: polymerase chain reaction;   Other: flow cytometry;   Other: immunologic technique;   Procedure: biopsy
28 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
29 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
30 Completed Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities
Condition: Homozygous Familial Hypercholesterolemia
Interventions: Biological: Evolocumab (AMG145);   Other: Placebo
31 Completed Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Procedure: MRI
32 Recruiting Colder Flank Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
33 Completed A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease
Intervention:
34 Recruiting Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
Intervention:
35 Completed Efficacy and Safety Study of JTT-705 in Combination With Pravastatin 40 mg in Patients With Type II Hyperlipidemia
Condition: Type II Hyperlipidemia
Interventions: Drug: JTT-705 600 mg and pravastatin 40 mg;   Drug: JTT-705 300 mg and pravastatin 40 mg;   Drug: Placebo and pravastatin 40 mg
36 Completed PET Scan of Brain Metabolism in Relation to Age and Disease
Conditions: Alzheimer's Disease;   Brain Neoplasm;   Niemann Pick Disease
Intervention: Drug: 15 O Water
37 Completed An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Replagal
38 Completed Antiproteinuric Agents and Fabry Disease
Conditions: Fabry Disease;   Proteinuria
Intervention:
39 Completed
Has Results
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
Condition: Fabry Disease
Intervention: Biological: agalsidase alfa
40 Enrolling by invitation Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies
Condition: Lipoprotein Lipase Deficiency
Intervention:

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Indicates status has not been verified in more than two years