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Showing 1–16 of 16 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Sex Chromosome Aberrations Clear all
Recruiting No phase listed Observational Accepts healthy volunteers

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

NCT06373861
View directory record Official record
Conditions
Sex Chromosome Aneuploidy
Interventions
no intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
0 Days to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2037
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 17, 2024 · Synced Jul 23, 2026, 3:31 AM EDT
Completed Not applicable Interventional Results available

Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

NCT01585831
View directory record Official record
Conditions
Klinefelter Syndrome, XXY Syndrome
Interventions
Testosterone gel 1%, Placebo gel
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
8 Years to 18 Years · Male only
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Aug 9, 2021 · Synced Jul 23, 2026, 3:31 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 23, 2026, 3:31 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

NCT00471731
View directory record Official record
Conditions
Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older · Female only
Enrollment
72 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 13, 2018 · Synced Jul 23, 2026, 3:31 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

NCT01545674
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
Interventions
Blood Draw
Procedure
Lead sponsor
Natera, Inc.
Industry
Eligibility
Female only
Enrollment
937 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2023
U.S. locations
24
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 16 more
Source: ClinicalTrials.gov public record
Updated Mar 22, 2023 · Synced Jul 23, 2026, 3:31 AM EDT
Completed No phase listed Observational

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

NCT02109770
View directory record Official record
Conditions
Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
Not listed
Enrollment
216 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
2
States / cities
San Carlos, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 25, 2019 · Synced Jul 23, 2026, 3:31 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Non-invasive Prenatal Diagnostic Validation Study

NCT01574781
View directory record Official record
Conditions
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations, Other Microdeletions
Interventions
Blood draw, Cheek swab/Saliva Sampling
Procedure
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,781 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
1
States / cities
Redwood City, California
Source: ClinicalTrials.gov public record
Updated Jul 1, 2013 · Synced Jul 23, 2026, 3:31 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Non-Invasive Determination of Fetal Chromosome Abnormalities

NCT00891852
View directory record Official record
Conditions
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY), and Other Chromosome, Abnormalities.
Interventions
Not listed
Lead sponsor
Lenetix Medical Screening Laboratory
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009
U.S. locations
7
States / cities
Rockville, Maryland • Moristown, New Jersey • Mineola, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 30, 2009 · Synced Jul 23, 2026, 3:31 AM EDT
Recruiting No phase listed Observational

The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment

NCT07643896
View directory record Official record
Conditions
Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
BillionToOne Inc.
Industry
Eligibility
Female only
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Phoenix, Arizona • West Covina, California • Sarasota, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 11, 2026 · Synced Jul 23, 2026, 3:31 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 28, 2021 · Synced Jul 23, 2026, 3:31 AM EDT
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 Jul 23, 2026, 3:31 AM 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 Jul 23, 2026, 3:31 AM 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 Jul 23, 2026, 3:31 AM 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 Jul 23, 2026, 3:31 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

NCT01852708
View directory record Official record
Conditions
Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities, Microdeletion Syndromes
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,059 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2020
U.S. locations
7
States / cities
San Carlos, California • San Gabriel, California • Washington D.C., District of Columbia + 4 more
Source: ClinicalTrials.gov public record
Updated Dec 29, 2020 · Synced Jul 23, 2026, 3:31 AM 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 Jul 23, 2026, 3:31 AM EDT