Status | Study |
Recruiting |
Study Name: International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Condition: Neutral Lipid Storage Disease Date: 2016-08-04 |
Recruiting |
Study Name: Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Condition: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) Neutral Lipid Storage Disease With Date: 2016-07-06 Interventions: Dietary Supplement: CNT-02 Each subject will take 2.0g of the investigational product orally 3 times a d |
Not yet recruiting |
Study Name: Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases Condition: Lipid Metabolism, Inborn Errors Date: 2016-01-20 Interventions: Biological: Anti-oxLDL IgM antibody Immunization |
Recruiting |
Study Name: Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Condition: Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors Date: 2015-12-09 Interventions: Other: Sugar 10 minutes before exercising, the subjects are given a bolus of glucose solution 0.2 g/kg i |
Recruiting |
Study Name: LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Condition: Lysosomal Storage Diseases Gaucher Disease Sphingolipidose Date: 2015-03-13 |
Enrolling by invitation |
Study Name: Natural History of Pearson Syndrome Condition: Pearson Syndrome Date: 2014-12-22 |
Recruiting |
Study Name: Biomarker for Mucolipidosis Disorder Type I, II, III or IV Condition: Mucolipidosis Type I Mucolipidosis Type II Mucolipidosis T Date: 2014-10-23 |
Terminated |
Study Name: Phase 2 Study of EPI-743 in Children With Pearson Syndrome Condition: Pearson Syndrome Date: 2014-04-02 Interventions: Drug: EPI-743 EPI-743 is the quinone oxidation product of alpha-tocotrienol |
Active, not recruiting |
Study Name: Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Condition: Lysosomal Acid Lipase Deficiency Date: 2014-03-20 Interventions: Drug: sebelipase alfa Intravenous infusion of sebelipase alfa: 1mg/kg every other week |
Not yet recruiting |
Study Name: Effects of Fish Oil and Colesevelam Condition: Sitosterolemia Date: 2013-09-06 Interventions: Drug: Colesevelam Other Name: |