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Conditions: Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis
Interventions: Acoramidis (AG10) oral tablet; Drug
Lead sponsor: Eidos Therapeutics, a BridgeBio company; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 150 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2030
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Fibrodysplasia Ossificans Progressiva (FOP)
Interventions: Non-Interventional; Other
Lead sponsor: Regeneron Pharmaceuticals; Industry
Eligibility: Not listed
Enrollment: 131 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023
U.S. locations: 1
States / cities: Tarrytown, New York

Conditions: Congenital Adrenal Hyperplasia
Interventions: NBI-77860; Drug
Lead sponsor: Neurocrine Biosciences; Industry
Eligibility: 12 Years to 18 Years · Female only
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015
U.S. locations: 2
States / cities: Ann Arbor, Michigan • Seattle, Washington

Conditions: Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II, Mucolipidosis III, Schindler Disease, Sialidosis
Interventions: Non-interventional.; Other
Lead sponsor: Greenwood Genetic Center; Other
Eligibility: Not listed
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2020
U.S. locations: 1
States / cities: North Charleston, South Carolina

Conditions: Gout
Interventions: DECT scan; Procedure
Lead sponsor: Ardea Biosciences, Inc.; Industry
Eligibility: 18 Years to 85 Years
Enrollment: 223 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2016
U.S. locations: 9
States / cities: Irvine, California • Englewood, Colorado • Wheat Ridge, Colorado + 6 more

Conditions: Smith-Lemli-Opitz Syndrome
Interventions: Cholic Acid; Drug
Lead sponsor: University of Nebraska; Other
Eligibility: 2 Years to 25 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 2
States / cities: Aurora, Colorado • Omaha, Nebraska

Conditions: Adrenomyeloneuropathy, Adrenoleukodystrophy
Interventions: Lorenzo's oil; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years and older
Enrollment: 240 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2007
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Primary Hyperoxaluria Type 3
Interventions: Not listed
Lead sponsor: Dicerna Pharmaceuticals, Inc., a Novo Nordisk company; Industry
Eligibility: 2 Years and older
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 2
States / cities: Boston, Massachusetts • New York, New York

Conditions: Familial Partial Lipodystrophy, Metabolic Abnormalities
Interventions: REGN4461, Matching Placebo; Drug
Lead sponsor: Regeneron Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2024
U.S. locations: 5
States / cities: Boca Raton, Florida • Bethesda, Maryland • Ann Arbor, Michigan + 2 more

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: Fabry Disease
Interventions: migalastat HCl 150 mg; Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 12 Years to 17 Years
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2024
U.S. locations: 5
States / cities: Tampa, Florida • Atlanta, Georgia • Minneapolis, Minnesota + 2 more

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: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

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: Cytomegalovirus Retinitis, HIV Infections
Interventions: Ganciclovir; Drug
Lead sponsor: Roche Global Development; Other
Eligibility: 13 Years and older
Enrollment: 280 participants
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 35
States / cities: Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 27 more

Conditions: Fabry Disease
Interventions: Not listed
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 9,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2034
U.S. locations: 91
States / cities: Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 70 more

Conditions: Familial Hypercholesterolemia
Interventions: Genetic testing; Other
Lead sponsor: University of Pennsylvania; Other
Eligibility: 18 Years and older
Enrollment: 378 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2018
U.S. locations: 2
States / cities: Lancaster, Pennsylvania • Philadelphia, Pennsylvania

Conditions: Fabry Disease
Interventions: GZ/SAR402671; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older · Male only
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 3
States / cities: Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia

Conditions: Sanfilippo Syndrome Type C
Interventions: Not listed
Lead sponsor: Phoenix Nest; Industry
Eligibility: 12 Months and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2028
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: MPS II, Mucopolysaccharidosis II, Hunter Syndrome
Interventions: Not listed
Lead sponsor: Duke University; Other
Eligibility: Not listed
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2024
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Congenital Adrenal Hyperplasia
Interventions: Pre-Screening; Other
Lead sponsor: Adrenas Therapeutics Inc; Industry
Eligibility: 18 Years and older
Enrollment: 65 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Enchondromatosis
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 2 Years to 100 Years
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2030
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type 2, Primary Hyperoxaluria Type 3
Interventions: nedosiran; Drug
Lead sponsor: Dicerna Pharmaceuticals, Inc., a Novo Nordisk company; Industry
Eligibility: Up to 11 Years
Enrollment: 27 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Hypercholesterolemia
Interventions: Evolocumab, Low-density Lipoprotein Cholesterol (LDL-C) Apheresis; Biological · Procedure
Lead sponsor: Amgen; Industry
Eligibility: 18 Years and older
Enrollment: 39 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 4
States / cities: Boca Raton, Florida • Kansas City, Kansas • Grandville, Michigan + 1 more

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Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis

A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)

Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia

Longitudinal Studies of the Glycoproteinoses

DECT Study in Allopurinol-Treated Gout Patients

Smith-Lemli-Opitz Syndrome and Cholic Acid

A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy

Natural History of Patients With PH3 and a History of Stone Events

A Study to Examine the Effects of the Leptin Receptor (LEPR) Agonist Antibody REGN4461 in Adult Patients With Familial Partial Lipodystrophy (FPLD)

Early Check: Expanded Screening in Newborns

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

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

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Longitudinal Studies of Brain Structure and Function in MPS Disorders

A Study of Two Forms of Ganciclovir in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS

Fabry Disease Registry & Pregnancy Sub-registry

IN-TANDEM Familial Hypercholesterolemia Pilot Study

Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

MPS II Immunophenotyping

A Study to Determine Eligibility for CAH-301 (A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) [NCT04783181])

Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing

Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function

Evolocumab Compared to LDL-C Apheresis in Patients Receiving LDL-C Apheresis Prior to Study Enrollment