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Showing 1–18 of 18 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Klinefelter Syndrome Clear all
Completed No phase listed Observational

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

NCT00896272
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
14 Years to 80 Years · Male only
Enrollment
302 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 21, 2026, 2:19 PM 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 21, 2026, 2:19 PM EDT
Completed Phase 2 Interventional Results available

Androgen Effect on Klinefelter Syndrome Motor Outcome

NCT00348946
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
androgen oxandrolone, placebo
Drug · Other
Lead sponsor
Thomas Jefferson University
Other
Eligibility
4 Years to 12 Years · Male only
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 7, 2021 · Synced Jul 21, 2026, 2:19 PM 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 21, 2026, 2:19 PM EDT
Terminated No phase listed Observational

Fertility Assessment in Patients With Klinefelter Syndrome

NCT02461303
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Counseling
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
12 Years to 25 Years · Male only
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
2
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 23, 2018 · Synced Jul 21, 2026, 2:19 PM EDT
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 21, 2026, 2:19 PM EDT
Completed No phase listed Observational

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

NCT02723305
View directory record Official record
Conditions
Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Years to 17 Years · Male only
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 7, 2022 · Synced Jul 21, 2026, 2:19 PM EDT
Completed Not applicable Interventional

Klinefelter Fertility Preservation

NCT01817296
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testicular Biopsy
Procedure
Lead sponsor
Boston Children's Hospital
Other
Eligibility
12 Years to 25 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 14, 2014 · Synced Jul 21, 2026, 2:19 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 Jul 21, 2026, 2:19 PM EDT
Recruiting No phase listed Observational

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

NCT03396562
View directory record Official record
Conditions
Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome, Xxyy Syndrome, Xyyy Syndrome, Xxxx Syndrome, Xxxxx Syndrome, Xxxyy Syndrome, Xxyyy Syndrome, Xyyyy Syndrome, Male With Sex Chromosome Mosaicism
Interventions
Assessments of Development and Growth
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Weeks to 13 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
2
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 8, 2024 · Synced Jul 21, 2026, 2:19 PM EDT
Completed Phase 4 Interventional

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 5, 2022 · Synced Jul 21, 2026, 2:19 PM 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 21, 2026, 2:19 PM EDT
Completed Phase 2 Interventional Results available

RA-2 13-cis Retinoic Acid (Isotretinoin)

NCT02061384
View directory record Official record
Conditions
Male Infertility, Klinefelter's Syndrome, Y-chromosome Microdeletions
Interventions
13-cis retinoic acid, Calcitriol
Drug
Lead sponsor
University of Washington
Other
Eligibility
21 Years to 60 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 1, 2021 · Synced Jul 21, 2026, 2:19 PM EDT
Completed Phase 4 Interventional Results available

Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment

NCT02408445
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
testosterone cypionate 200mg/ml
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
42 Days to 108 Days · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 14, 2020 · Synced Jul 21, 2026, 2:19 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

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

NCT03836300
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 21, 2026, 2:19 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 16, 2020 · Synced Jul 21, 2026, 2:19 PM EDT
Withdrawn No phase listed Observational

Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

NCT00347464
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
2 Years to 21 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Dec 2, 2015 · Synced Jul 21, 2026, 2:19 PM EDT
Not listed Phase 4 Interventional Accepts healthy volunteers

Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome

NCT05498090
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Fenofibrate 145 mg
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
15 Years to 40 Years · Male only
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Jul 21, 2026, 2:19 PM EDT