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Showing 1–24 of 72 matching trials from the live ClinicalTrials.gov search.
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Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Acute Kidney Injury
Interventions
Cardiac Surgery with Cardiopulmonary Bypass
Procedure
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
0 Days to 31 Days
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Congenital Heart Disease, Cardiopulmonary Bypass, Myocardial Injury, Acute Kidney Injury, Acute Lung Injury
Interventions
RIPC, Control
Procedure
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
Up to 18 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Seattle, Washington
Recruiting Not applicable Interventional Accepts healthy volunteers

Physical Activity and Community EmPOWERment Project

NCT06740162
Conditions
Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome, Fragile X Syndrome, Cri-du-Chat Syndrome, De Lange Syndrome, Mental Retardation, X-Linked, Prader-Willi Syndrome, Rubinstein-Taybi Syndrome, Trisomy 13 Syndrome, WAGR Syndrome, Williams Syndrome
Interventions
PACE Program
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years and older
Enrollment
376 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
2
States / cities
Fayetteville, Arkansas • Chapel Hill, North Carolina
Conditions
Dwarfism, Turner's Syndrome
Interventions
Humatrope, Oxandrolone
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2007
U.S. locations
2
States / cities
Bethesda, Maryland • Philadelphia, Pennsylvania
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Cardiovascular Diseases, Cardiovascular Abnormalities, Calcifications, Vascular, Endstage Renal Disease, ESRD, Coronary Artery Calcification
Interventions
SNF472, Placebo
Drug
Lead sponsor
Sanifit Therapeutics S. A.
Other
Eligibility
18 Years to 80 Years
Enrollment
274 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
46
States / cities
Bakersfield, California • Chula Vista, California • Escondido, California + 42 more
Conditions
Infant, Premature, Congenital Heart Disease, Patent Ductus Arteriosus, Necrotizing Enterocolitis
Interventions
Near-infrared spectroscopy (NIRS)
Procedure
Lead sponsor
University of Utah
Other
Eligibility
12 Days to 6 Months
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
3
States / cities
Murray, Utah • Salt Lake City, Utah
Completed No phase listed Observational Accepts healthy volunteers Results available

Risk Factors, Costs, and Impacts of ED Boarding

NCT07532564
Conditions
Stroke (CVA) or TIA, Diabetes, Asthma (Diagnosis), COPD (Chronic Obstructive Pulmonary Disease), Sepsis, Hypertension, Heart Failure, Pneumonia, Urinary Tract Infection (Diagnosis), Chest Pain, Psychiatric Disorder, Sickle Cell Disease (SCD)
Interventions
Not listed
Lead sponsor
University of Maryland, Baltimore
Other
Eligibility
18 Years and older
Enrollment
30,486 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Years to 21 Years · Female only
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Turner Syndrome
Interventions
Humatrope
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
4 Years to 20 Years · Female only
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2015
U.S. locations
9
States / cities
Los Angeles, California • Aurora, Colorado • Hartford, Connecticut + 6 more
Conditions
Turner's Syndrome
Interventions
Estrogen
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
8 Years to 12 Years · Female only
Enrollment
260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1990
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
SGA, Turner Syndrome, Noonan Syndrome, ISS
Interventions
Somapacitan, Norditropin®
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
2 Years to 10 Years
Enrollment
412 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
35
States / cities
Birmingham, Alabama • Los Angeles, California • Sacramento, California + 32 more
Conditions
Prematurity, Respiratory Distress Syndrome, Patent Ductus Arteriosus
Interventions
Survanta (beractant), Curosurf (poractant)
Drug
Lead sponsor
Alan Fujii
Other
Eligibility
Up to 8 Hours
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Conditions
Congenital Heart Disease, Acute Kidney Injury
Interventions
NO gas delivered during cardiac surgery, placebo gas delivered during cardiac surgery
Drug · Other
Lead sponsor
Fabio Savorgnan
Other
Eligibility
Up to 30 Days
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Houston, Texas
Conditions
High Risk Pregnancy, Congenital Heart Disease, Fetal Hydrops, Twin Monochorionic Monoamniotic Placenta, Gastroschisis, Fetal Demise, Stillbirth, Fetal Arrhythmia, Long QT Syndrome, Intrauterine Fetal Death, Sudden Infant Death, Pregnancy Loss, Twin Twin Transfusion Syndrome, Birth Defect, Fetal Cardiac Anomaly, Fetal Cardiac Disorder, Fetal Death, Brugada Syndrome, Fetal Tachycardia
Interventions
Fetal Magnetocardiogram and Neonatal Electrocardiogram, Substudy only: Maternal/Infant Pharmacogenomic assessment postnatally
Diagnostic Test · Genetic
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
18 Years and older · Female only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2028
U.S. locations
2
States / cities
Madison, Wisconsin • Milwaukee, Wisconsin
Conditions
Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
Interventions
Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
Combination Product
Lead sponsor
Ascendis Pharma A/S
Industry
Eligibility
2 Years to 17 Years
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
17
States / cities
Palo Alto, California • Sacramento, California • Aurora, Colorado + 13 more
Conditions
Congenital Heart Disease in Pregnancy
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older · Female only
Enrollment
397 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2015
U.S. locations
2
States / cities
St Louis, Missouri • Cincinnati, Ohio
Completed No phase listed Observational Accepts healthy volunteers

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

NCT00471731
Conditions
Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older · Female only
Enrollment
72 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Cardiac Surgery, Acute Kidney Injury, Congenital Heart Disease, Aortic Surgery
Interventions
Acute normovolemic hemodilution (ANH)
Biological
Lead sponsor
University of California, Los Angeles
Other
Eligibility
18 Years and older
Enrollment
63 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Los Angeles, California
Terminated No phase listed Observational Accepts healthy volunteers

NICOM in Pregnant Women With Heart Disease

NCT03616730
Conditions
Heart Diseases in Pregnancy, Congenital Heart Disease in Pregnancy
Interventions
NICOM (non-invasive cardiac output monitor)
Diagnostic Test
Lead sponsor
Saint Luke's Health System
Other
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
1
States / cities
Kansas City, Missouri
Conditions
Long QT Syndrome
Interventions
Eleclazine
Drug
Lead sponsor
Gilead Sciences
Industry
Eligibility
18 Years to 75 Years
Enrollment
55 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015
U.S. locations
5
States / cities
DeLand, Florida • Miami, Florida • Orlando, Florida + 2 more
Conditions
Congenital Heart Disease, Congenital Vascular Disorder, Congenital Cardiomyopathy, Pregnancy Related
Interventions
Masimo Smart Wristband
Diagnostic Test
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio