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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Chromosome Abnormalities Clear all
Completed No phase listed Observational

Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

NCT00971334
View directory record Official record
Conditions
Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,502 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
30
States / cities
Mobile, Alabama • La Mesa, California • San Diego, California + 21 more
Source: ClinicalTrials.gov public record
Updated Feb 16, 2012 · Synced Jul 22, 2026, 5:57 AM EDT
Terminated Phase 3 Interventional

The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial

NCT07197034
View directory record Official record
Conditions
Hyperphagia, Prader-Willi Syndrome, Hyperphagia in Prader-Willi Syndrome
Interventions
ARD-101
Drug
Lead sponsor
Aardvark Therapeutics, Inc.
Industry
Eligibility
13 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
16
States / cities
Birmingham, Alabama • Orange, California • Palo Alto, California + 13 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Completed No phase listed Observational

A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome

NCT01580384
View directory record Official record
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
12 Years to 30 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
2
States / cities
Tucson, Arizona • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 2, 2015 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 3 Interventional Results available

Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia

NCT00322101
View directory record Official record
Conditions
Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome, Acute Myeloid Leukemia/Transient Myeloproliferative Disorder, Adult Acute Myeloid Leukemia in Remission, 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), Childhood Acute Myeloid Leukemia in Remission, Childhood Myelodysplastic Syndromes, de Novo Myelodysplastic Syndromes, Myelodysplastic Syndrome With Isolated Del(5q), Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Previously Treated Myelodysplastic Syndromes, Recurrent Adult Acute Myeloid Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndromes
Interventions
total-body irradiation, allogeneic hematopoietic stem cell transplantation, cyclophosphamide, mycophenolate mofetil, busulfan, cyclosporine, fludarabine phosphate, peripheral blood stem cell transplantation, nonmyeloablative allogeneic hematopoietic stem cell transplantation, laboratory biomarker analysis, cytogenetic analysis, flow cytometry, fluorescence in situ hybridization, pharmacological study, polymorphism analysis, tacrolimus, methotrexate
Radiation · Procedure · Drug + 2 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Up to 65 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
7
States / cities
Denver, Colorado • Altanta, Georgia • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2014 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Not applicable Interventional Results available

Promotion of Physical Activity in Adolescents With Intellectual and Developmental Disabilities

NCT03684512
View directory record Official record
Conditions
Adolescent Behavior, Intellectual Disability, Down Syndrome, Physical Activity
Interventions
Group Exercise Sessions, Individual Support Sessions, Facebook Group
Behavioral
Lead sponsor
University of Kansas
Other
Eligibility
10 Years to 21 Years
Enrollment
116 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Lawrence, Kansas
Source: ClinicalTrials.gov public record
Updated Jul 2, 2023 · Synced Jul 22, 2026, 5:57 AM EDT
Not listed No phase listed Observational

Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood

NCT00064597
View directory record Official record
Conditions
Chromosome Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 45 Years · Female only
Enrollment
3,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1987 – 2003
U.S. locations
5
States / cities
Chicago, Illinois • Boston, Massachusetts • Detroit, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 2 Interventional Results available

Ganaxolone Treatment in Children With Fragile X Syndrome

NCT01725152
View directory record Official record
Conditions
Fragile x Syndrome
Interventions
Ganaxolone, Placebo
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
6 Years to 17 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Apr 9, 2023 · Synced Jul 22, 2026, 5:57 AM EDT
Enrolling by invitation No phase listed Observational

Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome

NCT07450664
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
VYKAT XR
Drug
Lead sponsor
Soleno Therapeutics, Inc.
Industry
Eligibility
4 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
15
States / cities
Los Angeles, California • Atlanta, Georgia • Chicago, Illinois + 12 more
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Completed No phase listed Observational

Surgical Treatment of Children With OSA and Small Tonsils or Down Syndrome

NCT05154214
View directory record Official record
Conditions
Obstructive Sleep Apnea of Child
Interventions
Adenotonsillectomy, Drug-induced sleep endoscopy directed surgery
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
2 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 28, 2025 · Synced Jul 22, 2026, 5:57 AM EDT
Recruiting Phase 2 Interventional Accepts healthy volunteers

Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition

NCT05231798
View directory record Official record
Conditions
Down Syndrome, Down Syndrome, Partial Trisomy 21, Alzheimer Disease
Interventions
[18F]-FEOBV Radiotracer
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 55 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 21, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Rivastigmine Study in Adolescents With Down Syndrome

NCT01084135
View directory record Official record
Conditions
Down Syndrome
Interventions
Rivastigmine, Liquid Placebo
Drug · Other
Lead sponsor
Duke University
Other
Eligibility
10 Years to 17 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
2
States / cities
Baltimore, Maryland • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 5, 2015 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Not applicable Interventional Results available

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NCT03548779
View directory record Official record
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced Jul 22, 2026, 5:57 AM EDT
Terminated Phase 2 Interventional Results available

Pegasys in Patients With Chronic Myeloid Leukemia (CML)

NCT01392170
View directory record Official record
Conditions
Leukemia
Interventions
PEG-IFNá-2a
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
16 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 3, 2015 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 2 Interventional

Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome

NCT05322096
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 2, 2024 · Synced Jul 22, 2026, 5:57 AM EDT
Completed No phase listed Observational

The Clinical Study of Sex Chromosome Variants

NCT01661010
View directory record Official record
Conditions
Male Factor Infertility, Female Factor Infertility
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
112 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Withdrawn Phase 2 Interventional

Pediatric-Inspired Chemotherapy Plus Tyrosine Kinase Inhibitor in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia

NCT04845035
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 21, 2024 · Synced Jul 22, 2026, 5:57 AM EDT
Recruiting Phase 2 Interventional

MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies

NCT05735717
View directory record Official record
Conditions
Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, AML, TP53, Intrachromosomal Amplification of Chromosome 21, Cytogenetic Abnormality, CNS Leukemia, Minimal Residual Disease, Myelodysplasia, Juvenile Myelomonocytic Leukemia, Somatic Mutation, PTPN11 Gene Mutation, N-RAS Gene Amplification, Neurofibromatosis 1, NF1 Mutation, CBL Gene Mutation, Monosomy 7, Chromosome Abnormality, Fetal Hemoglobin, Lymphoblastic Lymphoma, High Grade Non-Hodgkin's Lymphoma, Adult
Interventions
Fludarabine, Busulfan, Melphalan, Rituximab, Levetiracetam, Alpha/Beta T Cell-Depleted Hematopoietic Stem Cells, Thymoglobulin, Cyclophosphamide
Drug · Biological
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 60 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 5, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
15 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated May 10, 2026 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 2 Interventional Results available

A Study in Adults and Adolescents With Angelman Syndrome (STARS)

NCT02996305
View directory record Official record
Conditions
Angelman Syndrome
Interventions
OV101 Regimen 1, OV101 regimen 2, Placebo
Drug · Other
Lead sponsor
Healx AI
Industry
Eligibility
13 Years to 49 Years
Enrollment
88 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
12
States / cities
Phoenix, Arizona • San Diego, California • Gainesville, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 2, 2025 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Not applicable Interventional

Post-operative Lite Run Study

NCT03135145
View directory record Official record
Conditions
Cerebral Palsy, Neurologic Disorder, Chromosome Abnormality, Spina Bifida
Interventions
Lite Run Gait Trainer, Usual Treatments
Device · Other
Lead sponsor
Gillette Children's Specialty Healthcare
Other
Eligibility
4 Years to 17 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Saint Paul, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 20, 2021 · Synced Jul 22, 2026, 5:57 AM EDT
Not listed No phase listed Observational

Turner Syndrome Prenatal Diagnosis Study

NCT01668251
View directory record Official record
Conditions
Turner Syndrome
Interventions
Not listed
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
Up to 3 Months · Female only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 19, 2012 · Synced Jul 22, 2026, 5:57 AM EDT
Completed Phase 2 Interventional

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

NCT01894958
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
NNZ-2566, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
12 Years to 45 Years · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
17
States / cities
Sacramento, California • Denver, Colorado • Washington D.C., District of Columbia + 14 more
Source: ClinicalTrials.gov public record
Updated Feb 4, 2018 · Synced Jul 22, 2026, 5:57 AM EDT
Terminated Phase 2 Interventional Results available

Evaluating The Safety Of Donepezil Hydrochloride (Aricept) For Up To 1 Year In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome - Follow-Up To A 10-Week, Double-Blind, Placebo-Controlled Trial

NCT00675025
View directory record Official record
Conditions
Down Syndrome
Interventions
Donepezil hydrochloride (Aricept)
Drug
Lead sponsor
Eisai Inc.
Industry
Eligibility
10 Years to 17 Years
Enrollment
117 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
31
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 24 more
Source: ClinicalTrials.gov public record
Updated Mar 28, 2021 · Synced Jul 22, 2026, 5:57 AM EDT
Available No phase listed Expanded access

18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia

NCT01916148
View directory record Official record
Conditions
Congenital Hyperinsulinism (CHI), Beckwith-Wiedemann Syndrome, Insulinoma
Interventions
18F-DOPA
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Not listed
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 26, 2026 · Synced Jul 22, 2026, 5:57 AM EDT