- Conditions
- CTX
- Interventions
- Blinded CDCA 250 mg TID, Placebo, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID, CDCA Weight-Based Dose TID
- Drug
- Lead sponsor
- Mirum Pharmaceuticals, Inc.
- Industry
- Eligibility
- 1 Month and older
- Enrollment
- 19 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2023
- U.S. locations
- 9
- States / cities
- Aurora, Colorado • Orlando, Florida • Iowa City, Iowa + 5 more
Search Results
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Showing 25–48
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- Conditions
- Inherited Metabolic Disorders (IMD)
- Interventions
- Safety and efficacy assessments
- Other
- Lead sponsor
- Magenta Therapeutics, Inc.
- Industry
- Eligibility
- Up to 16 Years
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2020
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Adrenoleukodystrophy (ALD), Krabbe Disease, Metachromatic Leukodystrophy (MLD), Sphingolipidoses, Peroxisomal Disorders
- Interventions
- Campath-1H, Cyclophosphamide, Busulfan, Allogeneic stem cell transplantation, Cyclosporine A, Mycophenolate Mofetil
- Drug · Procedure
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 46 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2017
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL, Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, Cerebellar Ataxia, Adrenomyeloneuropathy
- Interventions
- Home exercise
- Behavioral
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Other
- Eligibility
- 5 Years to 75 Years
- Enrollment
- 30 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- Baltimore, Maryland
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases, Central Nervous System Diseases, Demyelinating Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Sphingolipidoses, Hereditary Central Nervous System Demyelinating Diseases, Metabolic Inborn Brain Diseases, Lysosomal Storage Diseases, Metabolic Diseases, Sulfatidosis
- Interventions
- Not listed
- Lead sponsor
- Shire
- Industry
- Eligibility
- Up to 12 Years
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2016
- U.S. locations
- 4
- States / cities
- Torrance, California • Washington D.C., District of Columbia • Chicago, Illinois + 1 more
- Conditions
- Infantile Globoid Cell Leukodystrophy
- Interventions
- Not listed
- Lead sponsor
- Zymenex A/S
- Industry
- Eligibility
- Up to 2 Years
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2014
- U.S. locations
- 1
- States / cities
- Pittsburgh, Pennsylvania
- Conditions
- Genetic Disease
- Interventions
- Antisense oligonucleotide treatment (ASO)
- Drug
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 4 Years and older
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma, Wiskott-Aldrich Syndrome, Chediak Higashi Syndrome, Osteopetrosis, Neutropenia, Thrombocytopenia, Hurler Disease, Niemann-Pick Disease, Fucosidosis
- Interventions
- Hematopoietic stem cell transplantation
- Procedure
- Lead sponsor
- Children's Hospital Los Angeles
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2015
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Leukodystrophies
- Interventions
- Not listed
- Lead sponsor
- Baylor Research Institute
- Other
- Eligibility
- Not listed
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- ALSP
- Interventions
- No intervention
- Other
- Lead sponsor
- Vigil Neuroscience, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 56 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2025
- U.S. locations
- 6
- States / cities
- San Francisco, California • Englewood, Colorado • Boca Raton, Florida + 3 more
- 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
- Vasculopathy, Retinal, With Cerebral Leukodystrophy, Cerebroretinal Vasculopathy, Hereditary
- Interventions
- aclarubicin
- Drug
- Lead sponsor
- Washington University School of Medicine
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 4 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2020
- U.S. locations
- 1
- States / cities
- St Louis, Missouri
- 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
- Krabbe Disease
- Interventions
- Not listed
- Lead sponsor
- University of Pittsburgh
- Other
- Eligibility
- Up to 17 Years
- Enrollment
- 100 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2008 – 2027
- U.S. locations
- 1
- States / cities
- Pittsburgh, Pennsylvania
- Conditions
- Canavan Disease
- Interventions
- rAAV-Olig001-ASPA, Levetiracetam, Prednisone
- Drug
- Lead sponsor
- Myrtelle Inc.
- Industry
- Eligibility
- 3 Months to 60 Months
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2027
- U.S. locations
- 1
- States / cities
- Dayton, Ohio
- Conditions
- Lysosomal Storage Disease, Peroxisomal Disorder
- Interventions
- Campath-1H, Clofarabine, Melphalan, Total Body Irradiation with Marrow Boosting, Hematopoietic stem cell transplantation, Cyclosporine A, Mycophenolate mofetil
- Drug · Radiation · Biological
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 55 Years
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2013
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- 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
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus Merzbacher Like Disease, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Not listed
- Enrollment
- 12,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2030
- U.S. locations
- 23
- States / cities
- Los Angeles, California • Orange, California • Palo Alto, California + 18 more
- Conditions
- Inherited Metabolic Disorders (IMD)
- Interventions
- MGTA-456
- Drug
- Lead sponsor
- Magenta Therapeutics, Inc.
- Industry
- Eligibility
- 0 Years to 17 Years
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2021
- U.S. locations
- 2
- States / cities
- Minneapolis, Minnesota • Cincinnati, Ohio
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
- Interventions
- Confirmatory Testing
- Diagnostic Test
- Lead sponsor
- Albert Einstein College of Medicine
- Other
- Eligibility
- Up to 4 Weeks
- Enrollment
- 100,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2029
- U.S. locations
- 9
- States / cities
- Brooklyn, New York • Manhasset, New York • New York, New York + 2 more
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major, Pure Red-Cell Aplasia, Inborn Errors of Metabolism
- Interventions
- Stem Cell Transplantation
- Procedure
- Lead sponsor
- National Center for Research Resources (NCRR)
- NIH
- Eligibility
- 0 Years to 17 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 1995
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Autosomal Dominant Leukodystrophy
- Interventions
- nL-LMNB1-001
- Drug
- Lead sponsor
- n-Lorem Foundation
- Other
- Eligibility
- 51 Years to 51 Years · Male only
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- Rochester, Minnesota
- Conditions
- Metachromatic Leukodystrophy
- Interventions
- Enriched Hematopoetic Stem Cell Infusion
- Biological
- Lead sponsor
- Talaris Therapeutics Inc.
- Industry
- Eligibility
- Female only
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Leukodystrophy, Globoid Cell
- Interventions
- PBKR03
- Biological
- Lead sponsor
- Gemma Biotherapeutics
- Industry
- Eligibility
- 1 Month to 9 Months
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2030
- U.S. locations
- 4
- States / cities
- Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more