440 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 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
22 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
23 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
24 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
25 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
26 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
27 Completed Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities
Condition: Homozygous Familial Hypercholesterolemia
Interventions: Biological: Evolocumab (AMG145);   Other: Placebo
28 Completed Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Procedure: MRI
29 Recruiting Colder Flank Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
30 Completed A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease
31 Recruiting Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
32 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
33 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
34 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
35 Completed Antiproteinuric Agents and Fabry Disease
Conditions: Fabry Disease;   Proteinuria
36 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
37 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
38 Recruiting Exploration of Immunity in Gaucher Disease
Condition: Gaucher Disease
39 Completed Genomic Dissection of a QTL Affecting the Lipid Profile
Conditions: Cardiovascular Diseases;   Heart Diseases;   Obesity;   Hyperlipidemia, Familial Combined
40 Completed Quantitative Genetic Analysis of Lipid Research Clinic Family Data
Conditions: Cardiovascular Diseases;   Heart Diseases;   Coronary Disease;   Tangier Disease;   Atherosclerosis

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Indicates status has not been verified in more than two years