470 studies found for:    "lipid metabolism, inborn errors" OR "farber lipogranulomatosis"
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Rank Status Study
21 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
22 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
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 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
26 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
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, Type B;   Acyl-coA Dehydrogenase, Type 9
Intervention: Drug: triheptanoin
28 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
29 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
30 Active, not recruiting The Natural History of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention:
31 Active, not recruiting Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
Conditions: Hypercholesterolemia, Familial;   LIPOPROTEIN TYPES--Lp SYSTEM Lp(a) HYPERLIPOPROTEINEMIA
Interventions: Device: DALI-adsorber;   Device: MONET-Lipoprotein filter
32 Enrolling by invitation Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy
Conditions: Lipodystrophy;   Diabetes;   Hyperlipidemia
Intervention: Drug: Metreleptin
33 Completed Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Condition: Smith-Lemli-Opitz Syndrome
Intervention:
34 Active, not recruiting Study of the Long-term Effects of Exercise on Heath Indicators in Older People
Conditions: Hypertension With Complications and Secondary Hypertension;   Overweight and Obesity;   Lipid Metabolism Disorders;   Sarcopenia;   Osteoporosis;   Personal Satisfaction
Intervention: Behavioral: Exercise training
35 Recruiting Study of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
Condition: Homozygous Familial Hypercholesterolemia
Intervention: Drug: REGN1500
36 Unknown  Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study
Conditions: Non-alcoholic Fatty Liver Disease;   Cholesterol Ester Storage Disease
Intervention:
37 Completed A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects
Condition: Fabry Disease
Interventions: Drug: GR181413A/AT1001 solution;   Drug: GR181413A/AT1001 capsule;   Other: Potable water;   Drug: Placebo capsule
38 Not yet recruiting Effects of Lomitapide on Carotid and Aortic Atherosclerosis
Condition: Homozygous Familial Hypercholesterolemia
Intervention: Drug: Lomitapide
39 Completed
Has Results
A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Fabrazyme (agalsidase beta)
40 Completed
Has Results
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease
Conditions: Gaucher Disease, Type 1;   Cerebroside Lipidosis Syndrome;   Glucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease;   Gaucher Disease, Non-Neuronopathic Form
Intervention: Drug: Cerezyme

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Indicates status has not been verified in more than two years