19. Lysosomal storage disease Clinical trials / Disease details


Clinical trials : 854 Drugs : 716 - (DrugBank : 105) / Drug target genes : 70 - Drug target pathways : 191

  
2 trials found
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1NCT04002531
(ClinicalTrials.gov)
November 10, 201825/3/2019A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As ChildrenA One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As ChildrenQuality of Life;Renal Insufficiency;Cardiac EventOther: General and Neurological examination;Other: Vital signs;Procedure: 12 lead electrocardiogram;Procedure: Echocardiogram;Procedure: Blood draw;Procedure: Urine collection;Procedure: 2-hour Holter Monitor;Other: Brief Pain Inventory questionnaire;Other: Quality of Life questionnaireBaylor Research InstituteShireEnrolling by invitation18 YearsN/AAll12N/AUnited States
2NCT02171104
(ClinicalTrials.gov)
July 10, 201420/6/2014MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisMT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATGMucopolysaccharidosis Disorders;Hurler Syndrome;Hunter Syndrome;Maroteaux Lamy Syndrome;Sly Syndrome;Alpha-Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Glycoprotein Metabolic Disorders;Sphingolipidoses;Recessive Leukodystrophies;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy;Niemann-Pick B;Niemann-Pick C Subtype 2;Sphingomyelin Deficiency;Peroxisomal Disorders;Adrenoleukodystrophy With Cerebral Involvement;Zellweger Syndrome;Neonatal Adrenoleukodystrophy;Infantile Refsum Disease;Acyl-CoA Oxidase Deficiency;D-Bifunctional Enzyme Deficiency;Multifunctional Enzyme Deficiency;Alpha-methylacyl-CoA Racmase Deficiency;Mitochondrial Neurogastrointestingal Encephalopathy;Severe Osteopetrosis;Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);Inherited Metabolic DisordersBiological: Stem Cell Transplantation;Drug: IMD Preparative Regimen;Drug: Osteopetrosis Only Preparative Regimen;Drug: Osteopetrosis Haploidentical Only Preparative Regimen;Drug: cALD SR-A (Standard-Risk, Regimen A);Drug: cALD SR-B (Standard-Risk, Regimen B);Drug: cALD HR-D (High-Risk, Regimen C);Drug: cALD HR-D (High-Risk, Regimen D)Masonic Cancer Center, University of MinnesotaNULLRecruitingN/A55 YearsAll100Phase 2United States