- 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
Search Results
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Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
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Showing 1–24
of 37
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- MPS IIIB (Sanfilippo B Syndrome)
- Interventions
- Not listed
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- 1 Year and older
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 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 IIIB
- Interventions
- Not listed
- Lead sponsor
- Allievex Corporation
- Industry
- Eligibility
- Up to 18 Years
- Enrollment
- 44 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2025
- U.S. locations
- 1
- States / cities
- Oakland, California
- Conditions
- Mucopolysaccharidosis IIIA, MPS IIIA, Sanfilippo Syndrome, Sanfilippo A
- Interventions
- No Investigational Product, Adjuvant Immunomodulatory (IM) Therapy
- Other · Drug
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Industry
- Eligibility
- Not listed
- Enrollment
- 41 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2027
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- Conditions
- Mucopolysaccharidosis Type IIIB, MPS III B
- Interventions
- AX 250
- Drug
- Lead sponsor
- Allievex Corporation
- Industry
- Eligibility
- 0 Years to 18 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2025
- U.S. locations
- 2
- States / cities
- Oakland, California • Pittsburgh, Pennsylvania
- Conditions
- Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB
- Interventions
- Lumbar puncture, Magnetic Resonance Imaging (MRI) of the brain
- Procedure · Device
- Lead sponsor
- Nationwide Children's Hospital
- Other
- Eligibility
- 2 Years and older
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2015
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- Conditions
- MPS IIIB (Sanfilippo Syndrome)
- Interventions
- Not listed
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- Not listed
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2015
- U.S. locations
- 1
- States / cities
- Pittsburgh, Pennsylvania
- Conditions
- Mucopolysaccharidosis III-B
- Interventions
- ABO-101
- Biological
- Lead sponsor
- Abeona Therapeutics, Inc
- Industry
- Eligibility
- Not listed
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- Conditions
- Sanfilippo Syndrome Type C, Mucopolysaccharidosis (MPS) IIIC
- Interventions
- Not listed
- Lead sponsor
- Phoenix Nest
- Industry
- Eligibility
- 1 Year to 25 Years
- Enrollment
- 35 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2029
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis
- Interventions
- Clofarabine, Total body Irradiation, Melphalan, Hematopoietic Stem Cell Transplantation, Alemtuzumab, mycophenylate mofetil, Cyclosporine A, Hydroxyurea
- Drug · Procedure · Biological + 1 more
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 70 Years
- Enrollment
- 38 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2006 – 2014
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Sanfilippo Syndrome Type A
- Interventions
- assessment
- Other
- Lead sponsor
- Shire
- Industry
- Eligibility
- 1 Year and older
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2013
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Sanfilippo Syndrome Type A (MPS IIIA)
- Interventions
- SOBI003
- Drug
- Lead sponsor
- Swedish Orphan Biovitrum
- Industry
- Eligibility
- 18 Months to 78 Months
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2021
- U.S. locations
- 2
- States / cities
- Oakland, California • Chapel Hill, North Carolina
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
- Interventions
- ALD-101
- Biological
- Lead sponsor
- Aldagen
- Industry
- Eligibility
- Up to 16 Years
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2011
- U.S. locations
- 3
- States / cities
- Los Angeles, California • New York, New York • Durham, North Carolina
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neimann Pick Disease, Pelizaeus-Merzbacher Disease, Sandhoff Disease, Tay-Sachs Disease, Brain Diseases, Metabolic, Inborn, Alpha-Mannosidosis, Sanfilippo Mucopolysaccharidoses
- Interventions
- DUOC-01
- Biological
- Lead sponsor
- Joanne Kurtzberg, MD
- Other
- Eligibility
- 1 Week to 22 Years
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2026
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- MPS III B
- Interventions
- AX 250
- Drug
- Lead sponsor
- Allievex Corporation
- Industry
- Eligibility
- Not listed
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 2
- States / cities
- Oakland, California • Pittsburgh, Pennsylvania
- 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 IIIA
- Interventions
- LYS-SAF302
- Drug
- Lead sponsor
- LYSOGENE
- Industry
- Eligibility
- 6 Months and older
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2022
- U.S. locations
- 4
- States / cities
- Orange, California • Minneapolis, Minnesota • New York, New York + 1 more
- 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
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies, Inborn Errors of Metabolism, Sickle Cell, Thalassemia, Lysosomal Storage Disease
- Interventions
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Biological · Drug
- Lead sponsor
- Duke University
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2014
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B, Hurler Syndrome
- Interventions
- Not listed
- Lead sponsor
- University of Minnesota
- Other
- Eligibility
- 2 Years to 12 Years
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2014
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Mucopolysaccharidosis III
- Interventions
- anakinra
- Biological
- Lead sponsor
- Lynda E Polgreen
- Other
- Eligibility
- 4 Years and older
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2023
- U.S. locations
- 1
- States / cities
- Torrance, California
- Conditions
- Mucopolysaccharidosis Type IIIA
- Interventions
- DNL126
- Drug
- Lead sponsor
- Denali Therapeutics Inc.
- Industry
- Eligibility
- 0 Years to 18 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2028
- U.S. locations
- 4
- States / cities
- Oakland, California • Iowa City, Iowa • Chapel Hill, North Carolina + 1 more
- Conditions
- Mucopolysaccharidosis III-A
- Interventions
- No intervention
- Other
- Lead sponsor
- Sanguine Biosciences
- Industry
- Eligibility
- 4 Months to 13 Years
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 1
- States / cities
- Woburn, Massachusetts