Large-scale testing (Phase 3)Study completedNCT00104234What this trial is testingStudy of rhASB in Patients With Mucopolysaccharidosis VIWho this might be right forMucopolysaccharidosis VI BioMarin Pharmaceutical 39
Testing effectiveness (Phase 2)Study completedNCT00048711What this trial is testingOpen-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VIWho this might be right forMucopolysaccharidosis VI BioMarin Pharmaceutical
Not applicableEnrolling By InvitationNCT05368038What this trial is testingScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramWho this might be right forAcid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more Albert Einstein College of Medicine 100,000
Testing effectiveness (Phase 2)Ended earlyNCT00668564What this trial is testingHematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismWho this might be right forHurler's SyndromeMaroteaux-Lamy SyndromeSly Syndrome+8 more Masonic Cancer Center, University of Minnesota 18
Not applicableEnded earlyNCT02156674What this trial is testingNaglazyme After Allo Transplant for Maroteaux-Lamy SyndromeWho this might be right forMaroteaux-Lamy Syndrome Masonic Cancer Center, University of Minnesota 1
Testing effectiveness (Phase 2)Active Not RecruitingNCT05845749What this trial is testingSafety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VIWho this might be right forMPS IVAMPS VI University of California, San Francisco 6
Testing effectiveness (Phase 2)Study completedNCT00176917What this trial is testingStem Cell Transplantation for HurlerWho this might be right forMucopolysaccharidosis IMucopolysaccharidosis VIMannosidosis+1 more Masonic Cancer Center, University of Minnesota 41
Not applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Not applicableUnknownNCT00005900What this trial is testingStudy of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationWho this might be right forI Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more Fairview University Medical Center 10
Not applicableStudy completedNCT01521429What this trial is testingLongitudinal Study of Bone Disease in Children with Mucopolysaccharidoses (MPS) I, II, and VIWho this might be right forMucopolysaccharidoses Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center 55
Not applicableStudy completedNCT01870375What this trial is testingLongitudinal Studies of Brain Structure and Function in MPS DisordersWho this might be right forMucopolysaccharidosis Type IMucopolysaccharidosis Type IIMucopolysaccharidosis Type VI+2 more University of Minnesota 100
Not applicableLooking for participantsNCT05619900What this trial is testingRegistry of Patients Diagnosed With Lysosomal Storage DiseasesWho this might be right forMucopolysaccharidosis IMucopolysaccharidosis IIMucopolysaccharidosis IV A+5 more University of California, San Francisco 250
Not applicableStudy completedNCT01961518What this trial is testingScreening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy SyndromeWho this might be right forMorquio Syndrome AMaroteaux Lamy SyndromeMPS IVA+1 more Greenwood Genetic Center 17
Testing effectiveness (Phase 2)Study completedNCT03370653What this trial is testingA Study in MPS VI to Assess Safety and Efficacy of OdiparcilWho this might be right forMucopolysaccharidosis VI Inventiva Pharma 20
Large-scale testing (Phase 3)Ended earlyNCT00748969What this trial is testingClinical Trial of Growth Hormone in MPS I, II, and VIWho this might be right forMucopolysaccharidosis IMucopolysaccharidosis IIMucopolysaccharidosis VI Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center 2
Not applicableEnrolling By InvitationNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Not applicableStudy completedNCT01938014What this trial is testingLysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool ChildrenWho this might be right forMucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis Type II (MPS II)Mucopolysaccharidosis Type III (MPS III)+2 more University of Chicago 19
Testing effectiveness (Phase 2)Active Not RecruitingNCT02171104What this trial is testingMT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisWho this might be right forMucopolysaccharidosis DisordersHurler SyndromeHunter Syndrome+26 more Masonic Cancer Center, University of Minnesota 149
Large-scale testing (Phase 3)Ended earlyNCT00654433What this trial is testingALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesWho this might be right forInherited Metabolic DiseasesLysosomal Storage DisordersPeroxisomal Storage Diseases+2 more Aldagen 40
Not applicableWithdrawnNCT01458613What this trial is testingBiomarker for Maroteaux-Lamy Disease (BioMaroteaux)Who this might be right forLysosomal Storage DiseaseLung DiseasesObstructive Sleep Apnoea+2 more CENTOGENE GmbH Rostock