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Showing 505–528 of 559 matching trials from the live ClinicalTrials.gov search.
Completed Not applicable Interventional

Klinefelter Fertility Preservation

NCT01817296
Conditions
Klinefelter Syndrome
Interventions
Testicular Biopsy
Procedure
Lead sponsor
Boston Children's Hospital
Other
Eligibility
12 Years to 25 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Prader-Willi Syndrome
Interventions
Placebo, Guanfacine extended release (GXR)
Other · Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
6 Years to 35 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
New York, New York
Conditions
Pregnancy
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,209 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
8
States / cities
Phoenix, Arizona • Hagerstown, Maryland • Greensboro, North Carolina + 5 more
Completed Phase 2 Interventional Results available

Acamprosate in Youth With Fragile X Syndrome

NCT01300923
Conditions
Fragile X Syndrome, Autism Spectrum Disorders
Interventions
Acamprosate
Drug
Lead sponsor
Indiana University
Other
Eligibility
5 Years to 17 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Indianapolis, Indiana
Conditions
Acute Lymphoblastic Leukemia
Interventions
Dasatinib, Ponatinib, Berlin-Frankfurt-Münster Chemotherapy, Methotrexate and Cytarabine
Drug
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Ann Arbor, Michigan
Conditions
Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
Interventions
Tirzepatide
Drug
Lead sponsor
Grace Kim
Other
Eligibility
18 Years to 26 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
3
States / cities
Saint Paul, Minnesota • Nashville, Tennessee • Seattle, Washington
Conditions
Neuroblastoma
Interventions
laboratory biomarker analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 18 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Monrovia, California
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
Prader-Willi Syndrome
Interventions
3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin, placebo
Drug
Lead sponsor
Levo Therapeutics, Inc.
Industry
Eligibility
7 Years to 18 Years
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
19
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 16 more
Conditions
Infertility, Mosaicism, Aneuploidy
Interventions
Not listed
Lead sponsor
Inception Fertility Research Institute, LLC
Industry
Eligibility
Female only
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
1
States / cities
Houston, Texas
Conditions
Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
Interventions
Alpha Auditory Entrainment, Sham
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 10 Years
Enrollment
180 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2028
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Myeloproliferative Disorders, Kidney Cancer, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, fludarabine phosphate, methotrexate, tacrolimus, nonmyeloablative allogeneic HSCT
Biological · Drug · Procedure
Lead sponsor
Northside Hospital, Inc.
Other
Eligibility
Up to 75 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Atlanta, Georgia
Completed No phase listed Observational Accepts healthy volunteers

Fat Distribution and Glucose Metabolism in Williams Syndrome

NCT01864304
Conditions
Williams Syndrome
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
14 Years to 70 Years
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
1
States / cities
Boston, Massachusetts
Terminated Not applicable Interventional Accepts healthy volunteers

Blood Flow in Individuals With Down Syndrome

NCT03590665
Conditions
Down Syndrome
Interventions
Hand grip exercise and lower body negative pressure
Other
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
18 Years to 45 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Chicago, Illinois
Not listed No phase listed Observational Accepts healthy volunteers

Genetics and Psychopathology in the 22q11 Deletion Syndrome

NCT00161109
Conditions
Chromosome 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
UMC Utrecht
Other
Eligibility
8 Years to 20 Years
Enrollment
175 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2012
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Leukemia
Interventions
Azacitidine (AZA), Tyrosine kinase inhibitor (TKI), Azacitidine
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
16 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Houston, Texas
Conditions
Prader-Willi Syndrome
Interventions
NNZ-2591
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
4 Years to 12 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
4
States / cities
San Diego, California • Atlanta, Georgia • Chevy Chase, Maryland + 1 more
Conditions
Trisomy 21
Interventions
Not listed
Lead sponsor
Roche Sequencing Solutions
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
18,955 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
26
States / cities
Tucson, Arizona • Oakland, California • Palo Alto, California + 20 more
Completed No phase listed Observational Accepts healthy volunteers

Brain-Derived Neurotrophic Factor in Obesity and Brain Function

NCT01517048
Conditions
Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Up to 99 Years
Enrollment
93 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Prader-Willi Syndrome, Obesity, Hyperphagia
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
6 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Gainesville, Florida
Conditions
Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Chronic Myelomonocytic Leukemia, Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Philadelphia Chromosome Negative Chronic Myelogenous Leukemia, Previously Treated Myelodysplastic Syndromes, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Relapsing Chronic Myelogenous Leukemia
Interventions
decitabine, vorinostat, laboratory biomarker analysis, pharmacological study
Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
Houston, Texas
Conditions
Prader-Willi Syndrome
Interventions
RGH-706, Placebo
Drug
Lead sponsor
Gedeon Richter Plc.
Industry
Eligibility
17 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
6
States / cities
San Diego, California • Chicago, Illinois • Brooklyn, New York + 3 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
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 45 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
12
States / cities
Phoenix, Arizona • Sacramento, California • Decatur, Georgia + 9 more