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Showing 217–240 of 363 matching trials from the live ClinicalTrials.gov search.
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
Completed Phase 2 Interventional Results available

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

NCT00064792
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Simvastatin Susp., OraPlus
Drug
Lead sponsor
Forbes Porter, M.D.
NIH
Eligibility
4 Years to 18 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Disabilities, Obesity and Overweight, Prediabetes
Interventions
High Carbohydrate Diet, Reduced Carbohydrate Diet
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
18 Years to 75 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026
U.S. locations
1
States / cities
Birmingham, Alabama
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
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
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
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NCT05368038
Conditions
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
Albert Einstein College of Medicine
Other
Eligibility
Up to 4 Weeks
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2029
U.S. locations
9
States / cities
Brooklyn, New York • Manhasset, New York • New York, New York + 2 more
Conditions
Down Syndrome
Interventions
Ubiquinol-10 Syrup, syrup (placebo)
Dietary Supplement
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Years to 16 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2012
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Velocardiofacial Syndrome
Interventions
Challenging Our Minds Program
Behavioral
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
12 Years to 16 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Conditions
Down Syndrome, Alzheimer Disease, Dementia
Interventions
Not listed
Lead sponsor
University of Southern California
Other
Eligibility
25 Years to 55 Years
Enrollment
550 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
18
States / cities
Phoenix, Arizona • Orange, California • Aurora, Colorado + 15 more
Terminated No phase listed Observational Accepts healthy volunteers

Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders

NCT00001178
Conditions
Alzheimer's Disease, Dementia, Down's Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years and older
Enrollment
597 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1981 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Multiple Sclerosis
Interventions
Low-Load Exercise with Blood Flow Restriction, Low-Load Exercise Control Group
Other
Lead sponsor
VA Office of Research and Development
Federal
Eligibility
18 Years to 75 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Down Syndrome, Trisomy 21
Interventions
Enriched Play Environment with Partial Body Weight Support Harness, Enriched Play Environment without Partial Body Weight Support Harness
Device · Other
Lead sponsor
University of Washington
Other
Eligibility
Up to 36 Months
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Seattle, Washington
Conditions
Memory Replay, HippoCamera
Interventions
Memory replay
Behavioral
Lead sponsor
Boston College
Other
Eligibility
15 Years to 35 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Chestnut Hill, Massachusetts
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal blood screening test for fetal aneuploidy
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
25
States / cities
Mesa, Arizona • Phoenix, Arizona • Tucson, Arizona + 18 more
Conditions
Alzheimer Disease, Down Syndrome, Mild Cognitive Impairment
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease, Alzheimer's Disease
Interventions
Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a, ACI-24.060 with an additional adjuvant at Dose D in Study Part 1b, Placebo (Study Part 2), ACI-24.060 at Dose A in Study Part 2, ACI-24.060 at Dose B in Study Part 2, ACI-24.060 at Dose C in Study Part 2, Placebo (Study Part 1b), ACI-24.060 with an additional adjuvant at Dose E in Study Part 1b
Biological
Lead sponsor
AC Immune SA
Industry
Eligibility
35 Years to 85 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
13
States / cities
Phoenix, Arizona • Lady Lake, Florida • Orlando, Florida + 9 more