513 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 Terminated Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
22 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
23 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:
24 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
25 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
26 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
27 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
28 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
29 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
30 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
31 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
32 Enrolling by invitation A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Patients With CLN2 Disease
Conditions: Jansky-Bielschowsky Disease;   Batten Disease;   Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;   CLN2 Disease;   CLN2 Disorder
Intervention: Drug: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
33 Not yet recruiting CoolSculpting the Upper Arm Study
Condition: Body Fat Disorder
Intervention: Device: The ZELTIQ System
34 Recruiting The Approach Extension Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome
Conditions: Familial Chylomicronemia Syndrome;   Lipoprotein Lipase Deficiency;   Hyperlipoproteinemia Type 1
Intervention: Drug: Volanesorsen
35 Not yet recruiting Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment
Condition: Lipoprotein Lipase Deficiency
Intervention: Drug: Heparin
36 Not yet recruiting A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
Condition: Homozygous Familial Hypercholesterolemia
Intervention: Genetic: AAV directed hLDLR gene therapy
37 Completed
Has Results
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Condition: Gaucher Disease
Intervention: Genetic: genetic analyses
38 Recruiting Lipidomics and Functional Analyses of Platelets in Fabry Disease
Condition: Fabry Disease
Intervention:
39 Recruiting Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Condition: Cerebrotendinous Xanthomatosis (CTX)
Intervention:
40 Not yet recruiting Open Label Study to Evaluate Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Pediatric Subjects (10 to 17 Years of Age) With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH).
Condition: Familial Hypercholesterolemia
Intervention: Biological: evolocumab (AMG 145)

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Indicates status has not been verified in more than two years