483 studies found for:    "chanarin-dorfman syndrome" OR "lipid metabolism, inborn errors"
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Rank Status Study
21 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
22 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
23 Not yet recruiting Effects of Colesevelam
Condition: Sitosterolemia
Interventions: Drug: Colesevelam;   Other: Placebo
24 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:
25 Active, not recruiting Sitosterolemia Metabolism
Condition: Sitosterolemia
Intervention: Drug: Ezetimibe
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 Recruiting Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: GZ/SAR402671
33 Recruiting Atherosclerosis in Familial Hypercholesterolemia
Condition: Familial Hypercholesterolemia
Intervention: Other: CT coronary angiogram and carotid ultrasound
34 Active, not recruiting A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of 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: Biological: BMN 190
35 Recruiting Study to Evaluate the Effects of MBX-8025 in Patients With HoFH
Condition: Homozygous Familial Hypercholesterolemia
Interventions: Other: Run-In Period: Placebo;   Drug: MBX-8025 50 mg (Dose Escalation Period 1);   Drug: MBX-8025 50 mg or 100 mg (Dose Escalation Period 2);   Drug: MBX-8025 50 mg, 100 mg or 200 mg (Dose Escalation Period 3)
36 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
Intervention:
37 Not yet recruiting Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia
Condition: Familial Hypercholesterolemia
Interventions: Other: Pre-lipid apheresis;   Other: Post-lipid apheresis
38 Recruiting A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384)
Conditions: Hypercholesterolemia;   Heterozygous Familial Hypercholesterolemia
Interventions: Drug: EZ 10 mg/Atorva 20 mg FDC;   Drug: EZ 10 mg/Atorva 10 mg FDC
39 Recruiting Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Conditions: Fabry's Disease;   Chronic Pain
Intervention: Genetic: Diagnosis of Fabry disease
40 Not yet recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
Intervention:

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Indicates status has not been verified in more than two years