- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome, Prenatal Benign Hypophosphatasia, Perinatal Lethal Hypophosphatasia, Odontohypophosphatasia, Adult Hypophosphatasia, Childhood-onset Hypophosphatasia, Infantile Hypophosphatasia, Hypophosphatasia, Kabuki Syndrome, Bohring-Opitz Syndrome, Narcolepsy Without Cataplexy, Narcolepsy-cataplexy, Hypersomnolence Disorder, Idiopathic Hypersomnia Without Long Sleep Time, Idiopathic Hypersomnia With Long Sleep Time, Idiopathic Hypersomnia, Kleine-Levin Syndrome, Kawasaki Disease, Leiomyosarcoma, Leiomyosarcoma of the Corpus Uteri, Leiomyosarcoma of the Cervix Uteri, Leiomyosarcoma of Small Intestine, Acquired Myasthenia Gravis, Addison Disease, Hyperacusis (Hyperacousis), Juvenile Myasthenia Gravis, Transient Neonatal Myasthenia Gravis, Williams Syndrome, Lyme Disease, Myasthenia Gravis, Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome), Isolated Klippel-Feil Syndrome, Frasier Syndrome, Denys-Drash Syndrome, Beckwith-Wiedemann Syndrome, Emanuel Syndrome, Isolated Aniridia, Axenfeld-Rieger Syndrome, Aniridia-intellectual Disability Syndrome, Aniridia - Renal Agenesis - Psychomotor Retardation, Aniridia - Ptosis - Intellectual Disability - Familial Obesity, Aniridia - Cerebellar Ataxia - Intellectual Disability, Aniridia - Absent Patella, Aniridia, Peters Anomaly - Cataract, Peters Anomaly, Potocki-Shaffer Syndrome, Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11, Silver-Russell Syndrome Due to Imprinting Defect of 11p15, Silver-Russell Syndrome Due to 11p15 Microduplication, Syndromic Aniridia, WAGR Syndrome, Wolf-Hirschhorn Syndrome, 4p16.3 Microduplication Syndrome, 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome, Autosomal Recessive Stickler Syndrome, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Stickler Syndrome, Mucolipidosis Type 4, X-linked Spinocerebellar Ataxia Type 4, X-linked Spinocerebellar Ataxia Type 3, X-linked Intellectual Disability - Ataxia - Apraxia, X-linked Progressive Cerebellar Ataxia, X-linked Non Progressive Cerebellar Ataxia, X-linked Cerebellar Ataxia, Vitamin B12 Deficiency Ataxia, Toxic Exposure Ataxia, Unclassified Autosomal Dominant Spinocerebellar Ataxia, Thyroid Antibody Ataxia, Sporadic Adult-onset Ataxia of Unknown Etiology, Spinocerebellar Ataxia With Oculomotor Anomaly, Spinocerebellar Ataxia With Epilepsy, Spinocerebellar Ataxia With Axonal Neuropathy Type 2, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 37, Spinocerebellar Ataxia Type 36, Spinocerebellar Ataxia Type 35, Spinocerebellar Ataxia Type 34, Spinocerebellar Ataxia Type 32, Spinocerebellar Ataxia Type 31, Spinocerebellar Ataxia Type 30, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 29, Spinocerebellar Ataxia Type 28, Spinocerebellar Ataxia Type 27, Spinocerebellar Ataxia Type 26, Spinocerebellar Ataxia Type 25, Spinocerebellar Ataxia Type 23, Spinocerebellar Ataxia Type 22, Spinocerebellar Ataxia Type 21, Spinocerebellar Ataxia Type 20, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 19/22, Spinocerebellar Ataxia Type 18, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 16, Spinocerebellar Ataxia Type 15/16, Spinocerebellar Ataxia Type 14, Spinocerebellar Ataxia Type 13, Spinocerebellar Ataxia Type 12, Spinocerebellar Ataxia Type 11, Spinocerebellar Ataxia Type 10, Spinocerebellar Ataxia Type 1 With Axonal Neuropathy, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia - Unknown, Spinocerebellar Ataxia - Dysmorphism, Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Spasticity-ataxia-gait Anomalies Syndrome, Spastic Ataxia With Congenital Miosis, Spastic Ataxia - Corneal Dystrophy, Spastic Ataxia, Rare Hereditary Ataxia, Rare Ataxia, Recessive Mitochondrial Ataxia Syndrome, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Posterior Column Ataxia - Retinitis Pigmentosa, Post-Stroke Ataxia, Post-Head Injury Ataxia, Post Vaccination Ataxia, Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract, Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus, Non-hereditary Degenerative Ataxia, Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity, Olivopontocerebellar Atrophy - Deafness, NARP Syndrome, Myoclonus - Cerebellar Ataxia - Deafness, Multiple System Atrophy, Parkinsonian Type, Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Maternally-inherited Leigh Syndrome, Machado-Joseph Disease Type 3, Machado-Joseph Disease Type 2, Machado-Joseph Disease Type 1, Leigh Syndrome, Late-onset Ataxia With Dementia, Infection or Post Infection Ataxia, GAD Ataxia, Hereditary Episodic Ataxia, Gliadin/Gluten Ataxia, Friedreich Ataxia, Fragile X-associated Tremor/Ataxia Syndrome, Familial Paroxysmal Ataxia, Exposure to Medications Ataxia, Episodic Ataxia With Slurred Speech, Episodic Ataxia Unknown Type, Episodic Ataxia Type 7, Episodic Ataxia Type 6, Episodic Ataxia Type 5, Episodic Ataxia Type 4, Episodic Ataxia Type 3, Episodic Ataxia Type 1, Epilepsy and/or Ataxia With Myoclonus as Major Feature, Early-onset Spastic Ataxia-neuropathy Syndrome, Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity, Early-onset Cerebellar Ataxia With Retained Tendon Reflexes, Early-onset Ataxia With Dementia, Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia, Dilated Cardiomyopathy With Ataxia, Cataract - Ataxia - Deafness, Cerebellar Ataxia, Cayman Type, Cerebellar Ataxia With Peripheral Neuropathy, Cerebellar Ataxia - Hypogonadism, Cerebellar Ataxia - Ectodermal Dysplasia, Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss, Brain Tumor Ataxia, Brachydactyly - Nystagmus - Cerebellar Ataxia, Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia, Autosomal Recessive Syndromic Cerebellar Ataxia, Autosomal Recessive Spastic Ataxia With Leukoencephalopathy, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria, Autosomal Recessive Spastic Ataxia, Autosomal Recessive Metabolic Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine, Autosomal Recessive Ataxia, Beauce Type, Autosomal Recessive Ataxia Due to Ubiquinone Deficiency, Autosomal Recessive Ataxia Due to PEX10 Deficiency, Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia, Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia, Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome, Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity, Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency, Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect, Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion, Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation, Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness, Autosomal Recessive Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly, Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation, Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy, Autosomal Dominant Spastic Ataxia Type 1, Autosomal Dominant Spastic Ataxia, Autosomal Dominant Optic Atrophy, Ataxia-telangiectasia Variant, Ataxia-telangiectasia, Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy, Autosomal Dominant Cerebellar Ataxia Type 4, Autosomal Dominant Cerebellar Ataxia Type 3, Autosomal Dominant Cerebellar Ataxia Type 2, Autosomal Dominant Cerebellar Ataxia Type 1, Autosomal Dominant Cerebellar Ataxia, Ataxia-telangiectasia-like Disorder, Ataxia With Vitamin E Deficiency, Ataxia With Dementia, Ataxia - Oculomotor Apraxia Type 1, Ataxia - Other, Ataxia - Genetic Diagnosis - Unknown, Acquired Ataxia, Adult-onset Autosomal Recessive Cerebellar Ataxia, Alcohol Related Ataxia, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type II, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Multiple Endocrine Neoplasia, Type IV, Multiple Endocrine Neoplasia, Type 3, Multiple Endocrine Neoplasia (MEN) Syndrome, Multiple Endocrine Neoplasia Type 2B, Multiple Endocrine Neoplasia Type 2A, Atypical Hemolytic Uremic Syndrome, Atypical HUS, Wiedemann-Steiner Syndrome, Breast Implant-Associated Anaplastic Large Cell Lymphoma, Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA), Hemophagocytic Lymphohistiocytosis, Behcet's Disease, Alagille Syndrome, Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD), Lowe Syndrome, Pitt Hopkins Syndrome, 1p36 Deletion Syndrome, Jansen Type Metaphyseal Chondrodysplasia, Cockayne Syndrome, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Malan Syndrome, Hereditary Sensory and Autonomic Neuropathy Type Ie, VCP Disease, Hypnic Jerking, Sleep Myoclonus, Mollaret Meningitis, Recurrent Viral Meningitis, CRB1, Leber Congenital Amaurosis, Retinitis Pigmentosa, Rare Retinal Disorder, KCNMA1-Channelopathy, Primary Biliary Cirrhosis, ZMYND11, Transient Global Amnesia, Glycogen Storage Disease, Alstrom Syndrome, White Sutton Syndrome, DNM1, EIEE31, Myhre Syndrome, Recurrent Respiratory Papillomatosis, Laryngeal Papillomatosis, Tracheal Papillomatosis, Refsum Disease, Nicolaides Baraitser Syndrome, Leukodystrophy, Tango2, Cauda Equina Syndrome, Rare Gastrointestinal Disorders, Achalasia-Addisonian Syndrome, Achalasia Cardia, Achalasia Icrocephaly Syndrome, Anal Fistula, Congenital Sucrase-Isomaltase Deficiency, Eosinophilic Gastroenteritis, Idiopathic Gastroparesis, Hirschsprung Disease, Rare Inflammatory Bowel Disease, Intestinal Pseudo-Obstruction, Scleroderma, Short Bowel Syndrome, Sacral Agenesis, Sacral Agenesis Syndrome, Caudal Regression, Scheuermann Disease, SMC1A Truncated Mutations (Causing Loss of Gene Function), Cystinosis, Juvenile Nephropathic Cystinosis, Nephropathic Cystinosis, Kennedy Disease, Spinal Bulbar Muscular Atrophy, Warburg Micro Syndrome, Mucolipidoses, Mitochondrial Diseases, Mitochondrial Aminoacyl-tRNA Synthetases, Mt-aaRS Disorders, Hypertrophic Olivary Degeneration, Non-Ketotic Hyperglycinemia, Fish Odor Syndrome, Halitosis, Isolated Congenital Asplenia, Lambert Eaton (LEMS), Biliary Atresia, STAG1 Gene Mutation, Coffin Lowry Syndrome, Borjeson-Forssman-Lehman Syndrome, Blau Syndrome, Arginase 1 Deficiency, HSPB8 Myopathy, Beta-Mannosidosis, TBX4 Syndrome, DHDDS Gene Mutations, MAND-MBD5-Associated Neurodevelopmental Disorder, Constitutional Mismatch Repair Deficiency (CMMRD), SPATA5 Disorder, SPATA5L1 Related Disorder, Acrodysostosis, Multi-systematic Smooth Muscle Dysfunction Syndrome, CRELD1 (Cysteine Rich With EGF Like Domains 1), GNB1 Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Beta Mannosidosis, Kbg Syndrome, Labrune Syndrome, Metachromatic Leukodystrophy (MLD), Moyamoya Disease, OPHN1 Syndrome, Oculopharyngeal Muscular Dystrophy (OPMD), TUBB3 Mutation, WOREE (WWOX-related Epileptic Encephalopathy, SCAR12, Skraban-Deardorff Syndrome, Hereditary Myopathy With Early Respiratory Failure
- Interventions
- Not listed
- Lead sponsor
- Sanford Health
- Other
- Eligibility
- Not listed
- Enrollment
- 20,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2100
- U.S. locations
- 1
- States / cities
- Sioux Falls, South Dakota
Search Results
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- 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
- Wilson Disease
- Interventions
- ALXN1840
- Drug
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 29 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2018
- U.S. locations
- 4
- States / cities
- Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 1 more
- Conditions
- Primary Open Angle Glaucoma, Myopia
- Interventions
- Not listed
- Lead sponsor
- University of California, San Diego
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 3,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 1995 – 2030
- U.S. locations
- 1
- States / cities
- La Jolla, California
- Conditions
- Lung Cancer, Breast Cancer, Colon Cancer, Bladder Cancer, Hepatocellular Cancer
- Interventions
- SAFER TRACKS Intervention
- Behavioral
- Lead sponsor
- VA Office of Research and Development
- Federal
- Eligibility
- 18 Years to 65 Years
- Enrollment
- 46 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2023
- U.S. locations
- 2
- States / cities
- Houston, Texas • White River Junction, Vermont
- Conditions
- Diagnostic Errors
- Interventions
- Mindfulness breathing exercise, Diagnostic Checklist, Noise cancelling headphones, Privacy tablescreen, Diagnostic assistance application
- Behavioral
- Lead sponsor
- University of Michigan
- Other
- Eligibility
- 18 Years to 99 Years
- Enrollment
- 59 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2019
- U.S. locations
- 2
- States / cities
- Ann Arbor, Michigan
- Conditions
- Disabilities Multiple
- Interventions
- Electonic health record prompts with education, Standard of care
- Behavioral · Other
- Lead sponsor
- Rush University Medical Center
- Other
- Eligibility
- 3 Years to 89 Years
- Enrollment
- 120,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2029
- U.S. locations
- 1
- States / cities
- Chicago, Illinois
- Conditions
- X-Linked Adrenoleukodystrophy, Adrenomyeloneuropathy
- Interventions
- Sobetirome
- Drug
- Lead sponsor
- Thomas S. Scanlan
- Other
- Eligibility
- 18 Years to 64 Years · Male only
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2014
- U.S. locations
- 1
- States / cities
- Portland, Oregon
- Conditions
- Cancers
- Interventions
- Laparoscopic surgery
- Procedure
- Lead sponsor
- Erin Rowell
- Other
- Eligibility
- Up to 11 Years · Female only
- Enrollment
- 250 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2035
- U.S. locations
- 1
- States / cities
- Chicago, Illinois
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
- Interventions
- There is no intervention
- Other
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Up to 64 Years
- Enrollment
- 250 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2050
- U.S. locations
- 1
- States / cities
- San Francisco, California
- Conditions
- All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis
- Interventions
- Not listed
- Lead sponsor
- Sanguine Biosciences
- Industry
- Eligibility
- 18 Years to 100 Years
- Enrollment
- 17,667 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2013 – 2024
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Transthyretin (TTR) Amyloid Cardiomyopathy
- Interventions
- Tafamidis
- Drug
- Lead sponsor
- Pfizer
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 1,733 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2023
- U.S. locations
- 41
- States / cities
- Birmingham, Alabama • Beverly Hills, California • La Jolla, California + 20 more
- Conditions
- Transthyretin (TTR) Amyloid Cardiomyopathy
- Interventions
- AI Toolkit for ATTR-CM Diagnosis
- Diagnostic Test
- Lead sponsor
- Yale University
- Other
- Eligibility
- 50 Years to 95 Years
- Enrollment
- 1,500,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 11
- States / cities
- San Francisco, California • New Haven, Connecticut • Detroit, Michigan + 8 more
- Conditions
- Hunter Syndrome
- Interventions
- Idursulfase-IT, Elaprase
- Drug
- Lead sponsor
- Takeda
- Industry
- Eligibility
- 3 Years to 18 Years · Male only
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2024
- U.S. locations
- 7
- States / cities
- Chicago, Illinois • Chapel Hill, North Carolina • Portland, Oregon + 4 more
- Conditions
- Cerebrotendinous Xanthomatosis (CTX)
- Interventions
- Not listed
- Lead sponsor
- Travere Therapeutics, Inc.
- Industry
- Eligibility
- 2 Years to 21 Years
- Enrollment
- 442 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2021
- U.S. locations
- 44
- States / cities
- Birmingham, Alabama • La Jolla, California • Los Angeles, California + 38 more
- Conditions
- Cellulitis, Skin and Subcutaneous Tissue Infection
- Interventions
- Thermal Imaging as Diagnostic Adjunct
- Diagnostic Test
- Lead sponsor
- University of Wisconsin, Madison
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 416 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 1
- States / cities
- Madison, Wisconsin
- Conditions
- Systemic Lupus Erythematosus, Sjogren's Syndrome, Inflammatory Myositis, Psoriatic Arthritis, Gout, Ankylosing Spondylitis, Arthritis of Multiple Sites Associated With Inflammatory Bowel Disease (Diagnosis), Osteoarthritis
- Interventions
- mRNA COVD19 vaccine
- Biological
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 58 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2022
- U.S. locations
- 1
- States / cities
- Rochester, Minnesota
- Conditions
- Compensation Incentives, Clinical Documentation, Physician Work Environment, Diagnostic Error
- Interventions
- Compensation Incentives to improve Clinical Documentation
- Behavioral
- Lead sponsor
- Rush University Medical Center
- Other
- Eligibility
- Not listed
- Enrollment
- 32 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2022 – 2023
- U.S. locations
- 1
- States / cities
- Chicago, Illinois
- Conditions
- Lactose Intolerance
- Interventions
- GIMate, H2 Check
- Diagnostic Test
- Lead sponsor
- Vivante Health
- Industry
- Eligibility
- 18 Years to 55 Years
- Enrollment
- 31 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Niemann-Pick Disease, Type C
- Interventions
- arimoclomol, Placebo
- Drug
- Lead sponsor
- ZevraDenmark
- Industry
- Eligibility
- 2 Years to 18 Years
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2024
- U.S. locations
- 2
- States / cities
- Oakland, California • Rochester, Minnesota
- Conditions
- Hunter Syndrome
- Interventions
- idursulfase-IT, No IT treatment
- Biological · Other
- Lead sponsor
- Shire
- Industry
- Eligibility
- Up to 18 Years · Male only
- Enrollment
- 58 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2017
- U.S. locations
- 3
- States / cities
- Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina
- Conditions
- Familial Hypercholesterolemia
- Interventions
- Testing centralized referral mechanism for PCPs, Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation
- Behavioral
- Lead sponsor
- University of Pennsylvania
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 750 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2026
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Delirium, Confusion, Mental Status Change, Back Pain, Hip Pain Chronic, Chest Pain, Asthma, COPD, Cellulitis, Soft Tissue Infections, Cough, Deep Vein Thrombosis, Pulmonary Embolism, Venous Thromboembolism, Dyspnea, Electrolyte Metabolism Abnormal, Fever, Failure to Thrive, Weakness, Protein-Calorie Malnutrition, Headache, Neck Pain, Hypoxia, Pneumonia, Sepsis, Syncope, Vomiting, Diarrhea, Leg Pain, Abdominal Pain
- Interventions
- Diagnostic Uncertainty Educational Curriculum, Diagnostic Timeout, Patient Diagnostic (Dx) Questionnaire, Enhancements to Epic-integrated Quality & Safety Dashboard
- Behavioral
- Lead sponsor
- Brigham and Women's Hospital
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 700 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2021
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Arterial Calcification Due to Deficiency of CD73
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 1 Month to 115 Years
- Enrollment
- 4,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 1978
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland