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Showing 1–24 of 47 matching trials from the live ClinicalTrials.gov search.
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Recruiting No phase listed Observational Accepts healthy volunteers

Loss of Y Chromosome in Aortic Stenosis

NCT06595407
Conditions
Aortic Stenosis
Interventions
Blood analysis for loss-of-Y chromosome
Diagnostic Test
Lead sponsor
University of Virginia
Other
Eligibility
40 Years and older · Male only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2026
U.S. locations
1
States / cities
Charlottesville, Virginia
Conditions
Congenital Heart Block, Neonatal Lupus, Autoantibody-Associated Heart Block
Interventions
Hydroxychloroquine
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years to 45 Years · Female only
Enrollment
74 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2020
U.S. locations
1
States / cities
New York, New York
Conditions
Aortic Stenosis, Aortic Regurgitation, Aortic Valve Insufficiency, Heart Valve Diseases, Cardiovascular Abnormalities, Cardiovascular Diseases, Congenital Abnormalities, Heart Diseases, Pathological Conditions, Anatomical
Interventions
Mitroflow DL
Device
Lead sponsor
LivaNova
Industry
Eligibility
Not listed
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
13
States / cities
Los Angeles, California • San Diego, California • Jacksonville, Florida + 9 more
Completed No phase listed Observational Accepts healthy volunteers

Follow Up on Freestyle Valves in Children

NCT00385112
Conditions
Right Ventricle, Pulmonary Valve Stenosis, Pulmonary Valve Atresia
Interventions
Echocardiogram
Procedure
Lead sponsor
Emory University
Other
Eligibility
8 Years to 40 Years
Enrollment
98 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2016
U.S. locations
1
States / cities
Atlanta, Georgia
Conditions
Heart Block, Bradycardia, Tachycardia, Arrhythmia
Interventions
MP3
Device
Lead sponsor
Boston Children's Hospital
Other
Eligibility
4 Years to 55 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Boston, Massachusetts
Active, not recruiting No phase listed Observational

COMPASSION S3 Post-Approval Study

NCT04860765
Conditions
Complex Congenital Heart Defect, Dysfunctional RVOT Conduit, Pulmonary Valve Insufficiency, Pulmonary Valve Degeneration, Pulmonary Valve; Obstruction
Interventions
SAPIEN 3 THV
Device
Lead sponsor
Edwards Lifesciences
Industry
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
19
States / cities
Birmingham, Alabama • Los Angeles, California • Aurora, Colorado + 15 more
Terminated Phase 4 Interventional Results available

Paravertebral Nerve Blocks in Neonates

NCT03408340
Conditions
Congenital Heart Disease
Interventions
Paravertebral Nerve Block, Standard of Care Anesthesia
Procedure · Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 12 Months
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Atlanta, Georgia
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
Conditions
Peripheral Artery Disease, Coronary Disease, Diabetes and Heart Failure, Dilated Cardiomyopathy, Heart Failure, Renal Artery Stenosis, Pulmonary Hypertension
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2009
U.S. locations
2
States / cities
Bethesda, Maryland
Completed No phase listed Observational

Exercise in Chronically Paced Children

NCT00374608
Conditions
Congenital Diseases, Complete Heart Block, Pacemaker
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
10 Years to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Atlanta, Georgia
Terminated Phase 2Phase 3 Interventional Results available

Specialized Pacing for Patients With Congenital Heart Disease

NCT03361189
Conditions
Congenital Heart Disease, Bradycardia Sinus
Interventions
Closed loop stimulation, Standard rate response
Device
Lead sponsor
University of California, Los Angeles
Other
Eligibility
14 Years to 65 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021
U.S. locations
1
States / cities
Los Angeles, California
Conditions
Aortic Valve Stenosis, Bicuspid Aortic Valve
Interventions
transcatheter aortic valve replacement (TAVR), surgical aortic valve replacement (SAVR)
Procedure
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
50 Years and older
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2037
U.S. locations
1
States / cities
Los Angeles, California
Enrolling by invitation 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 – 2025
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
Suggamadex, Surgery for Congenital Heart Disease
Interventions
Surgery
Procedure
Lead sponsor
Joseph D. Tobias
Other
Eligibility
0 Years to 18 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016
U.S. locations
1
States / cities
Columbus, Ohio
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Day to 85 Years
Enrollment
305 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
3
States / cities
Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio
Completed Not applicable Interventional Results available

Endothelin Blockade in Patients With Single Ventricle Physiology

NCT00989911
Conditions
Congenital Heart Disease
Interventions
Bosentan
Drug
Lead sponsor
University of California, Los Angeles
Other
Eligibility
12 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Los Angeles, California
Conditions
Congenital Heart Block, Neonatal Lupus, Autoantibody-associated Heart Block
Interventions
intravenous immune globulin (IVIG)
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
2
States / cities
Livingston, New Jersey • New York, New York
Conditions
Stroke, Patent Foramen Ovale, PFO
Interventions
Investigational PFO Closure Device, Standard of Care PFO Closure Device
Device
Lead sponsor
Occlutech International AB
Industry
Eligibility
18 Years and older
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
27
States / cities
Phoenix, Arizona • Stanford, California • Thousand Oaks, California + 20 more
Conditions
Coarctation of the Aorta, Aortic Arch Obstruction
Interventions
Monitoring using resonance Raman spectroscopy, pulse oximetry, blood pressure, and near-infrared spectroscopy
Device
Lead sponsor
Boston Children's Hospital
Other
Eligibility
0 Days to 60 Days
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Completed No phase listed Observational Accepts healthy volunteers

Impact of Elastin Mediated Vascular Stiffness on End Organs

NCT02840448
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
3 Years to 85 Years
Enrollment
159 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • St Louis, Missouri
Conditions
Aortic Coarctation, Cardiomyopathy, Atrial Septal Defect, Aortic Stenosis, Post Heart Transplant Catheter Procedure, Patent Ductus Arteriosus
Interventions
MRI guided cardiac catheterization, Magnetic resonance imaging
Procedure · Device
Lead sponsor
Joshua Kanter
Other
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2024
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Conditions
Complex Congenital Heart Defect, Dysfunctional RVOT Conduit, Pulmonary Valve Insufficiency, Pulmonary Valve Degeneration
Interventions
SAPIEN 3/SAPIEN 3 Ultra RESILIA THV, SAPIEN 3 THV, SAPIEN 3 Ultra RESILIA THV
Device
Lead sponsor
Edwards Lifesciences
Industry
Eligibility
Not listed
Enrollment
108 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2031
U.S. locations
25
States / cities
Little Rock, Arkansas • Los Angeles, California • San Francisco, California + 18 more
Conditions
Aortic Stenosis, Hypoplastic Left Heart Syndrome
Interventions
Fetal Aortic Valvuloplasty
Procedure
Lead sponsor
University of California, San Francisco
Other
Eligibility
16 Years and older · Female only
Enrollment
9 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2022
U.S. locations
1
States / cities
San Francisco, California
Completed Not applicable Interventional Results available

Pulmonary Artery Repair With Covered Stents

NCT01824160
Conditions
Pulmonary Stenosis, Pulmonary Regurgitation, Tetralogy of Fallot
Interventions
Repair of RV-PA Conduit Disruption
Device
Lead sponsor
Johns Hopkins University
Other
Eligibility
7 Years to 75 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
38
States / cities
Loma Linda, California • Los Angeles, California • San Diego, California + 34 more