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Conditions: Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI), Krabbe Disease
Interventions: Not listed
Lead sponsor: University of Chicago; Other
Eligibility: 1 Day to 18 Years
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2016
U.S. locations: 3
States / cities: Chicago, Illinois • Minneapolis, Minnesota • Buffalo, New York

Conditions: Mucopolysaccharidosis Type I
Interventions: Not listed
Lead sponsor: University of Minnesota; Other
Eligibility: 6 Years and older
Enrollment: 30 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm, Mucopolysaccharidosis I
Interventions: Venipuncture; Procedure
Lead sponsor: St. Jude Children's Research Hospital; Other
Eligibility: Not listed
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2024
U.S. locations: 1
States / cities: Memphis, Tennessee

Conditions: Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions: Confirmatory Testing; Diagnostic Test
Lead sponsor: RTI International; Other
Eligibility: 1 Day to 31 Days
Enrollment: 30,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2026
U.S. locations: 1
States / cities: Research Triangle Park, North Carolina

Conditions: Mucopolysaccharidosis Type IH, MPS I, Hurler Syndrome
Interventions: Laronidase; Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Not listed
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2018
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Mucopolysaccharidosis IIIB
Interventions: JR-446; Drug
Lead sponsor: JCR Pharmaceuticals Co., Ltd.; Industry
Eligibility: Up to 5 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 3
States / cities: Oakland, California • Pittsburgh, Pennsylvania • Fairfax, Virginia

Conditions: Hunter Syndrome
Interventions: Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg), Idursulfase IT (30 mg); Other · Drug
Lead sponsor: Shire; Industry
Eligibility: 3 Years to 18 Years · Male only
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2012
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

Conditions: Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
Interventions: Aldurazyme, placebo; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 45 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2005
U.S. locations: 8
States / cities: Mobile, Alabama • Atlanta, Georgia • Rochester, New York + 5 more

Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Mannosidosis, Mucolipidosis Type II (I-cell Disease)
Interventions: Stem Cell Transplant, Busulfan, Cyclophosphamide, ATG; Procedure · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Not listed
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1999 – 2010
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Interventions: Laronidase therapy and a stem cell transplant; Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: 0 Years to 3 Years
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
Interventions: Adalimumab, Placebo; Drug · Other
Lead sponsor: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center; Other
Eligibility: 5 Years and older
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2016
U.S. locations: 1
States / cities: Torrance, California

Conditions: MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease
Interventions: Aldurazyme (laronidase); Drug
Lead sponsor: University of California, San Francisco; Other
Eligibility: 18 Years to 50 Years · Female only
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2032
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
Interventions: Dried blood spot test for MPS; Other
Lead sponsor: National MPS Society; Other
Eligibility: 6 Months to 18 Years
Enrollment: 3,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 2
States / cities: New Brunswick, New Jersey • New York, New York

Conditions: Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia, Acquired Neutropenia in Newborn, Acquired Anemia Hemolytic, Acquired Thrombocytopenia, Hemophagocytic Lymphohistiocytoses, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Common Variable Immunodeficiency, X-linked Lymphoproliferative Disease, Severe Combined Immunodeficiency, Hurler Syndrome, Mannosidosis, Adrenoleukodystrophy
Interventions: Thiotepa--single daily dose, Thiotepa--escalated dose; Drug
Lead sponsor: University of Florida; Other
Eligibility: 3 Months to 39 Years
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2023
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Mucopolysaccharidosis I, Lysosomal Storage Diseases, Spinal Cord Compression
Interventions: laronidase; Drug
Lead sponsor: Patricia I. Dickson, M.D.; Individual
Eligibility: 8 Years and older
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2011
U.S. locations: 1
States / cities: Torrance, California

Conditions: Hurler Syndrome
Interventions: IRT Laronidase; Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: 6 Months to 3 Years
Enrollment: 26 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2018
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions: Not listed
Lead sponsor: University of Minnesota; Other
Eligibility: 6 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2019
U.S. locations: 3
States / cities: Oakland, California • Minneapolis, Minnesota • New York, New York

Conditions: Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Sphingolipidoses, Krabbe Disease, Wolman's Disease, Niemann-Pick Disease Type B, Niemann-Pick Disease, Type C
Interventions: Stem Cell Transplantation, Cyclophosphamide, Campath-1H, Busulfan; Procedure · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 21 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Mucopolysaccharidosis IIIB
Interventions: SBC-103; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 2 Years to 12 Years
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 2
States / cities: Minneapolis, Minnesota • Pittsburgh, Pennsylvania

Conditions: MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
Interventions: UX111, Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy, Adjuvant IM Therapy; Biological · Drug
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: Not listed
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2029
U.S. locations: 2
States / cities: Columbus, Ohio • Pittsburgh, Pennsylvania

Conditions: Mucopolysaccharidosis Type I (MPS I), Hurler Syndrome, Hurler-Scheie Syndrome
Interventions: RGX-111; Genetic
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 4 Months and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2029
U.S. locations: 1
States / cities: Orange, California

Conditions: MPS I
Interventions: SB-318; Biological
Lead sponsor: Sangamo Therapeutics; Industry
Eligibility: 5 Years and older
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2021
U.S. locations: 1
States / cities: Oakland, California

Conditions: MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA
Interventions: Not listed
Lead sponsor: Children's Hospital of Orange County; Other
Eligibility: 0 Years to 99 Years
Enrollment: 240 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2030
U.S. locations: 3
States / cities: Orange, California • Minneapolis, Minnesota • St Louis, Missouri

Conditions: Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions
Interventions: data collection; Drug
Lead sponsor: Paul Szabolcs; Other
Eligibility: 2 Months to 60 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2028
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

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Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

MRS to Determine Neuroinflammation and Oxidative Stress in MPS I

Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products

Early Check: Expanded Screening in Newborns

Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome

A Phase I/II Trial of JR-446 in Mucopolysaccharidosis Type IIIB (MPS IIIB)

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients

Stem Cell Transplantation for Hurler

Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.

Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics

Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation

Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I

Intrathecal Enzyme Replacement for Hurler Syndrome

Longitudinal Studies of Brain Structure and Function in MPS Disorders

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

RGX-111 Gene Therapy in Patients With MPS I

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I

Cardiac Structure and Function in MPS

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC