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Showing 1–24 of 88 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Chromosome Aberrations Clear all
Completed No phase listed Observational

A Study of Patients With AIDS Syndrome

NCT00001120
View directory record Official record
Conditions
Sarcoma, Kaposi, Lymphoma, Non-Hodgkin, HIV Infections, Lymphoma, AIDS-Related
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
23
States / cities
Menlo Park, California • San Francisco, California • San Rafael, California + 15 more
Source: ClinicalTrials.gov public record
Updated Sep 11, 2008 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Phase 2 Interventional Results available

An Extension Study of the Safety and Anti-leukemic Effects of Imatinib Mesylate in Participants With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Blast Crisis

NCT00171158
View directory record Official record
Conditions
Philadelphia Chromosome Positive CML
Interventions
imatinib mesylate
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
260 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2013
U.S. locations
3
States / cities
Chicago, Illinois • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2021 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Evaluation of Patients With Unresolved Chromosome Abnormalities

NCT00001639
View directory record Official record
Conditions
Abnormalities, Failure to Thrive, Mental Retardation, Microcephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
263 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

NCT02000167
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
1 Year to 21 Years
Enrollment
51 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 4, 2021 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Development of a Prenatal Test for Fetal Aneuploidy Detection

NCT01451671
View directory record Official record
Conditions
Fetal Complications
Interventions
Not listed
Lead sponsor
Cindy Cisneros
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2019
U.S. locations
3
States / cities
San Diego, California • Louisville, Kentucky • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 29, 2020 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Phase 3 Interventional Results available

A Multicenter Phase 3, Open-Label Study of Bosutinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia

NCT02130557
View directory record Official record
Conditions
Leukemia, Myelogenous, Chronic, Breakpoint Cluster Region-Abelson Proto-oncogene (BCR-ABL) Positive
Interventions
Bosutinib, Imatinib
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
536 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
65
States / cities
Anaheim, California • Atlanta, Georgia • Honolulu, Hawaii + 40 more
Source: ClinicalTrials.gov public record
Updated May 17, 2021 · Synced Sep 7, 2026, 2:40 PM 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 Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

High Risk Multiple Gestation Study

NCT02278874
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
4
States / cities
Boston, Massachusetts • Glen Cove, New York • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 12, 2019 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT00847990
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Sep 4, 2011 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Phase 1 Interventional

Treatment Strategies for Children With Smith-Magenis Syndrome

NCT00506259
View directory record Official record
Conditions
Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm, Self Injurious Behavior
Interventions
dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
Drug · Device
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years to 45 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 11, 2019 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Phase 1 Interventional

Safety & Efficacy Study of Oral Panobinostat (LBH589) With Chemotherapy in Patients < 65 Years Old With Acute Myeloid Leukemia (AML)

NCT01242774
View directory record Official record
Conditions
Acute Myeloid Leukemia (AML)
Interventions
Panobinostat
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 65 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
5
States / cities
Stanford, California • Boston, Massachusetts • Columbus, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 18, 2020 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

NCT01555346
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
3,062 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
27
States / cities
Mobile, Alabama • Tucson, Arizona • Campbell, California + 24 more
Source: ClinicalTrials.gov public record
Updated Apr 19, 2016 · Synced Sep 7, 2026, 2:40 PM EDT
Recruiting No phase listed Observational

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

NCT07493096
View directory record Official record
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Sep 7, 2026, 2:40 PM EDT
Recruiting No phase listed Observational

Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

NCT01429389
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2026
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Multiple Gestation Study

NCT02278536
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
354 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2019
U.S. locations
6
States / cities
San Carlos, California • San Diego, California • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2019 · Synced Sep 7, 2026, 2:40 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

NCT04109846
View directory record Official record
Conditions
Aneuploidy, Mosaicism, Pregnancy Outcome
Interventions
Non-euploid embryo transfer, Euploid Transfer
Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2039
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Apr 23, 2026 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Use of Videos to Improve Patient Knowledge on Prenatal Genetics

NCT03816423
View directory record Official record
Conditions
Aneuploidy, Birth Defect
Interventions
video
Other
Lead sponsor
University of South Florida
Other
Eligibility
18 Years and older · Female only
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated May 18, 2020 · Synced Sep 7, 2026, 2:40 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Chromosome 18 Clinical Research Center

NCT00227253
View directory record Official record
Conditions
Chromosome Aberrations, Growth Hormone Deficiency, Hypomyelination
Interventions
Determination of growth hormone status, Measurement of growth, thyroid and sex hormone levels, Behavior and neuropsychometric evaluations, Audiological and ear, nose and throat examination, Magnetic resonance imaging of the brain, Dysmorphology evaluation, Neurology examination, Dental evaluation, Speech pathology evaluation, Psychiatric evaluation, Orthopedic evaluation, Ophthalmologic evaluation, Gastrointestinal evaluation
Procedure
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1993 – 2040
U.S. locations
2
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Jan 5, 2026 · Synced Sep 7, 2026, 2:40 PM EDT
Active, not recruiting Phase 3 Interventional Results available

A Study of Oral Asciminib Versus Other TKIs in Adult Patients With Newly Diagnosed Ph+ CML-CP

NCT04971226
View directory record Official record
Conditions
Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive
Interventions
Imatinib, Nilotinib, Bosutinib, Dasatinib, Asciminib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
405 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
13
States / cities
Denver, Colorado • Fort Myers, Florida • Tallahassee, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 7, 2026, 2:40 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Screening of Low Responders for Aneuploidy to Improve Reproductive Efficiency

NCT01977144
View directory record Official record
Conditions
Infertility
Interventions
Comprehensive Chromosomal Screening
Other
Lead sponsor
Reproductive Medicine Associates of New Jersey
Other
Eligibility
18 Years to 43 Years · Female only
Enrollment
206 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2020
U.S. locations
1
States / cities
Basking Ridge, New Jersey
Source: ClinicalTrials.gov public record
Updated Jan 13, 2022 · Synced Sep 7, 2026, 2:40 PM EDT
Completed No phase listed Observational

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

NCT02787486
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 20, 2019 · Synced Sep 7, 2026, 2:40 PM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

GEM: Impact of a Video Education Tool on Decisional Conflict Among Prenatal Patients

NCT06771453
View directory record Official record
Conditions
Aneuploidy, Genetic Counseling, Informed Consent, Decisional Conflict
Interventions
Video Educational Tool Regarding Prenatal Genetics
Other
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older
Enrollment
140 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Sep 17, 2025 · Synced Sep 7, 2026, 2:40 PM 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 Sep 7, 2026, 2:40 PM 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 Sep 7, 2026, 2:40 PM EDT