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Showing 313–336 of 559 matching trials from the live ClinicalTrials.gov search.
Conditions
Prader-Willi Syndrome
Interventions
CSTI-500
Drug
Lead sponsor
ConSynance Therapeutics
Industry
Eligibility
13 Years to 50 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Nashville, Tennessee
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
Down Syndrome, Dysphagia, Oropharyngeal
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
3 Years to 18 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Down Syndrome, Bradycardia
Interventions
Monitoring patients undergoing surgery to look for association between ANS activity and bradycardia
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
1 Month to 8 Years
Enrollment
195 participants
Timeline
2022 – 2023
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Prader-Willi Syndrome
Interventions
Pitolisant oral tablets, Placebo oral tablet
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
6 Years to 65 Years
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
13
States / cities
San Diego, California • San Ramon, California • Santa Monica, California + 10 more
Withdrawn Phase 1 Interventional Accepts healthy volunteers

Novel Clinical Target in Fragile X Syndrome

NCT04314856
Conditions
Fragile X Syndrome (FXS)
Interventions
18F-FTC-146
Drug
Lead sponsor
Guido A. Davidzon, MD, SM
Other
Eligibility
18 Years to 65 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Stanford, California
Conditions
Cataract, Down Syndrome
Interventions
cataract surgery
Procedure
Lead sponsor
University of Colorado, Denver
Other
Eligibility
1 Month to 18 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Completed No phase listed Observational Accepts healthy volunteers

Pesticides--Health Fertility and Reproductive Risk

NCT00015561
Conditions
Birth Defects, Miscarriages, Cancer
Interventions
Not listed
Lead sponsor
National Institute of Environmental Health Sciences (NIEHS)
NIH
Eligibility
18 Years to 70 Years
Enrollment
1,803 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1996 – 2001
U.S. locations
1
States / cities
Minneapolis, Minnesota
Completed Not applicable Interventional Results available

Weight Management for Adolescents With IDD

NCT02561754
Conditions
Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome, Body Weight Changes, Intellectual Disability
Interventions
Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF), Technology (TECH), iPad with FaceTime
Dietary Supplement · Behavioral · Other
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
13 Years to 21 Years
Enrollment
110 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Kansas City, Kansas • Lawrence, Kansas
Completed Not applicable Interventional

Self-Monitoring Shopping Intervention

NCT04020302
Conditions
Intellectual Disability, Down Syndrome
Interventions
Self-monitoring shopping intervention
Behavioral
Lead sponsor
Columbia University
Other
Eligibility
18 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019
U.S. locations
1
States / cities
Hillsborough, New Jersey
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
Conditions
22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years to 48 Years · Female only
Enrollment
20,960 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2020
U.S. locations
16
States / cities
San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more
Conditions
Angelman Syndrome, Fragile X Syndrome
Interventions
OV101
Drug
Lead sponsor
Ovid Therapeutics Inc.
Industry
Eligibility
13 Years to 17 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
2
States / cities
Chicago, Illinois • Nashville, Tennessee
Conditions
Down Syndrome, Augmentative and Alternative Communication
Interventions
AAC Technology - Standard of Care, AAC Technology - non-optimal integrated arrangement
Device
Lead sponsor
Penn State University
Other
Eligibility
7 Years to 35 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
University Park, Pennsylvania
Recruiting No phase listed Observational Accepts healthy volunteers

The Human Trisome Project

NCT02864108
Conditions
Down Syndrome, Trisomy 21
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Months to 89 Years
Enrollment
2,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2036
U.S. locations
1
States / cities
Denver, Colorado
Conditions
Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
Interventions
RiaStAP, Saline
Drug
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
1 Day to 1 Year
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
2
States / cities
Miami, Florida
Conditions
Neuromuscular Diseases, Cerebral Palsy, Down Syndrome, Autism, Developmental Coordination Disorder
Interventions
Hippotherapy
Other
Lead sponsor
Central Michigan University
Other
Eligibility
5 Years to 17 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
1
States / cities
Dansville, Michigan
Conditions
Philadelphia Positive Chronic Myeloid Leukemia, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
Interventions
STI571 400 mg, STI571 600 mg
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
293 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2013
U.S. locations
4
States / cities
Boston, Massachusetts • New York, New York • Portland, Oregon + 1 more
Conditions
Early Pregnancy Loss
Interventions
cfDNA analysis
Genetic
Lead sponsor
Quest Diagnostics-Nichols Insitute
Industry
Eligibility
18 Years to 50 Years · Female only
Enrollment
78 participants
Timeline
2021 – 2022
U.S. locations
1
States / cities
San Juan Capistrano, California
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Recruiting Not applicable Interventional

Adapting RDAD for DS

NCT07425769
Conditions
Down Syndrome (DS), Alzheimer's Disease (AD)
Interventions
Remote Exercise Sessions, Caregiver Education Sessions
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026
U.S. locations
1
States / cities
Kansas City, Kansas
Completed Not applicable Interventional Results available

Trial of Minocycline to Treat Children With Fragile X Syndrome

NCT01053156
Conditions
Fragile X Syndrome
Interventions
minocycline hydrochloride, Placebo
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
42 Months to 16 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Sacramento, California
Conditions
Hyperphagia, Prader-Willi Syndrome
Interventions
tDCS
Device
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 64 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
3
States / cities
Kansas City, Kansas • Boston, Massachusetts • Dousman, Wisconsin
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
Down Syndrome, Trisomy 21
Interventions
EXPO, EXPO Extended, EXPO Foundations
Behavioral
Lead sponsor
Colorado State University
Other
Eligibility
36 Months to 72 Months
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Fort Collins, Colorado