476 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 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
23 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
24 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
25 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
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 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
28 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
Intervention:
29 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
30 Completed A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers
Condition: Fabry Disease
Interventions: Drug: IV migalastat HCl;   Drug: IV placebo;   Drug: oral migalastat HCl
31 Completed
Has Results
An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Biological: VPRIV®
32 Recruiting Biomarker for Metachromatic Leukodystrophy Disease
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System
Intervention:
33 Completed A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
34 Completed A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
Condition: Gaucher Disease
Interventions: Drug: ISU302;   Drug: Placebo
35 Completed Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Drug: Warfarin
36 Recruiting Screening for Fabry Disease in a Pediatric Population at Risk
Conditions: Chronic Pain in the Extremities;   Chronic Abdominal Pain;   Fabry Disease
Intervention: Other: Screening for Fabry disease
37 Recruiting Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Imiglucérase (drug) pharmacokinetics
38 Completed Effects of Enzyme Replacement in Gaucher's Disease
Condition: Gaucher's Disease
Intervention:
39 Completed
Has Results
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Condition: Niemann-Pick Disease, Type C
Intervention: Drug: N-Acetyl Cysteine
40 Enrolling by invitation The Very Large Database of Lipids (VLDL)
Condition: Lipid Disorders and Lipid Measurement
Intervention:

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Indicates status has not been verified in more than two years