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Conditions: Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Interventions: AT-GTX-501; Genetic
Lead sponsor: Emily de los Reyes; Other
Eligibility: 1 Year and older
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2024
U.S. locations: 1
States / cities: Columbus, Ohio

Conditions: Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
Interventions: scAAV9/AGA; Genetic
Lead sponsor: Rare Trait Hope; Other
Eligibility: 4 Years to 45 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2032
U.S. locations: 1
States / cities: Shreveport, Louisiana

Conditions: Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions: Biological Sample Collection; Other
Lead sponsor: New York Stem Cell Foundation Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 60 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: New York, New York

Conditions: Bowel Incontinence
Interventions: Renew Insert; Device
Lead sponsor: Renew Medical; Industry
Eligibility: 18 Years and older
Enrollment: 97 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 3
States / cities: Los Gatos, California • San Diego, California • Weston, Florida

Conditions: Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia, Paroxysmal Nocturnal Hemoglobinuria, Shwachman-Diamond Syndrome, Hematologic Neoplasm With Germline GATA2 Mutation, Hematologic Neoplasm With Germline SAMD9 Mutation, Hematologic Neoplasm With Germline SAMD9L Mutation
Interventions: Treosulfan, Fludarabine Phosphate, Tacrolimus, Methotrexate, Lapine T-Lymphocyte Immune Globulin, Peripheral Blood Stem Cell Transplantation, Allogeneic Bone Marrow Transplantation, Quality-of-Life Assessment, Echocardiography, Multigated Acquisition Scan, Bone Marrow Biopsy, Bone Marrow Aspiration, Biospecimen Collection, X-Ray Imaging, Computed Tomography; Drug · Biological · Procedure + 1 more
Lead sponsor: Fred Hutchinson Cancer Center; Other
Eligibility: 1 Year to 49 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2026
U.S. locations: 24
States / cities: Los Angeles, California • San Diego, California • San Francisco, California + 20 more

Conditions: Wilson Disease, Wilson's Disease, Wilsons Disease
Interventions: PM577a; Drug
Lead sponsor: Prime Medicine, Inc.; Industry
Eligibility: 12 Years and older
Enrollment: 42 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 3
States / cities: New Haven, Connecticut • Chicago, Illinois • San Antonio, Texas

Conditions: Hyperuricemia, Gout
Interventions: ALLN-346, Placebo; Drug
Lead sponsor: Allena Pharmaceuticals; Industry
Eligibility: 18 Years to 55 Years
Enrollment: 18 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021
U.S. locations: 1
States / cities: Cincinnati, Ohio

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: Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS, MERRF
Interventions: Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN); Behavioral
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 18 Years and older
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Urea Cycle Disorder, Inborn Errors of Metabolism
Interventions: UCD Anamix Infant; Other
Lead sponsor: Nutricia Research; Industry
Eligibility: Up to 30 Days
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2019
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Hypophosphatasia (HPP)
Interventions: asfotase alfa; Biological
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Up to 36 Months
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 6
States / cities: Little Rock, Arkansas • Wilmington, Delaware • Springfield, Missouri + 3 more

Conditions: Metachromatic Leukodystrophy
Interventions: Enriched Hematopoetic Stem Cell Infusion; Biological
Lead sponsor: Talaris Therapeutics Inc.; Industry
Eligibility: 3 Years and older · Male only
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: MPS II, Hunter Syndrome (MPS II)
Interventions: RGX-121-3102; Genetic
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 4 Months to 5 Years · Male only
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2031
U.S. locations: 1
States / cities: New Brunswick, New Jersey

Conditions: Urea Cycle Disorders, Organic Acidemias, Fatty Acid Oxidation Disorder, Ammonia; Metabolic Disorder
Interventions: Ammonia Study Device; Diagnostic Test
Lead sponsor: Sequitur Health Corp.; Industry
Eligibility: 12 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Portland, Oregon

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: Adrenoleukodystrophy
Interventions: Leriglitazone, Placebo; Drug
Lead sponsor: Minoryx Therapeutics, S.L.; Industry
Eligibility: 18 Years to 65 Years · Male only
Enrollment: 116 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2025
U.S. locations: 3
States / cities: Stanford, California • Baltimore, Maryland • Boston, Massachusetts

Conditions: Fabry Disease
Interventions: Not listed
Lead sponsor: O & O Alpan LLC; Other
Eligibility: 7 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2016
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Gout, Hyperuricemia
Interventions: Uricase-PEG 20; Biological
Lead sponsor: EnzymeRx; Industry
Eligibility: 40 Years to 75 Years
Enrollment: 28 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2009 – 2010
U.S. locations: 2
States / cities: Miami, Florida • Duncansville, Pennsylvania

Conditions: Gout, Hyperuricemia
Interventions: ABP-671, Placebo; Drug · Other
Lead sponsor: Atom Therapeutics Co., Ltd; Industry
Eligibility: 18 Years to 45 Years
Enrollment: 32 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Tempe, Arizona

Conditions: Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Week to 100 Years
Enrollment: 300 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2050
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Gout
Interventions: High Dose Colchicine (4.8 mg total dose), Low Dose Colchicine (1.8mg total dose), Placebo Control; Drug · Other
Lead sponsor: Takeda; Industry
Eligibility: 18 Years and older
Enrollment: 185 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2007
U.S. locations: 83
States / cities: Birmingham, Alabama • Columbiana, Alabama • Huntsville, Alabama + 78 more

Conditions: Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
Interventions: BMN 110; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Up to 5 Years
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 2
States / cities: Oakland, California • Manhasset, New York

Conditions: Hypercholesterolemia, Familial
Interventions: ISIS 301012; Drug
Lead sponsor: Kastle Therapeutics, LLC; Industry
Eligibility: 18 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2007
U.S. locations: 5
States / cities: Chicago, Illinois • New York, New York • Winston-Salem, North Carolina + 2 more

Conditions: Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Amyloid Neuropathies, Amyloidosis, Hereditary, Transthyretin-Related, Familial Transthyretin Cardiac Amyloidosis
Interventions: Revusiran (ALN-TTRSC), Sterile Normal Saline (0.9% NaCl); Drug
Lead sponsor: Alnylam Pharmaceuticals; Industry
Eligibility: 18 Years to 90 Years
Enrollment: 206 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2017
U.S. locations: 41
States / cities: Bakersfield, California • Beverly Hills, California • La Mesa, California + 30 more

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Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease

Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)

Drug Discovery for Parkinson's With Mutations in the GBA Gene

A Study to Evaluate the Safety, Tolerability and Effectiveness of the Renew Insert in Treating Accidental Bowel Leakage

Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)

A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)

Study 102: Multiple Ascending Dose Study of ALLN-346 (Engineered Urate Oxidase)

Early Check: Expanded Screening in Newborns

Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).

A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP)

Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)

RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)

At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism

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

A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients

Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta

Safety and Efficacy Study of Intramuscular Uricase-PEG 20

A Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ABP-671 in Healthy Subjects

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

MPC-004 for the Treatment of an Acute Gout Flare

Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)

Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy

ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)