494 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
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 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
24 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
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 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
27 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
28 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
29 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
30 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
31 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
32 Recruiting Flank Study With Crown Cooling Insert
Condition: Body Fat Disorder
Intervention: Device: The ZELTIQ System
33 Recruiting A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
34 Recruiting A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
35 Not yet recruiting Skeletal Response to Eliglustat in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: eliglustat
36 Recruiting Study of 2-hydroxypropyl-β-cyclodextrin (VTS-270) to Treat Niemann-Pick Type C1 (NPC1) Disease
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: VTS-270;   Drug: Sham Procedure Control
37 Completed Conjugated Linoleic Acid in Obese Women
Conditions: Lipid Metabolism Disorders;   Obesity
Interventions: Dietary Supplement: CLA;   Behavioral: Placebo
38 Recruiting The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
Conditions: Gaucher Disease Type 1;   Gaucher Disease Type 3
Intervention: Drug: Velaglucerase alfa
39 Recruiting Miglustat on Gaucher Disease Type IIIB
Condition: Gaucher Disease
Interventions: Drug: Miglustat;   Drug: ERT
Condition: Familial Hypercholesterolemia - Heterozygous

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Indicates status has not been verified in more than two years