Klinefelter Syndrome clinical trials
The registry lists 47 studies for Klinefelter Syndrome across more than 10 countries. 17 are recruiting or about to start. 31 of them are mainly about Klinefelter Syndrome (how this is decided). Per ClinicalTrials.gov, last updated 2026-10-29.
Get an email when these change. Save the Klinefelter Syndrome studies recruiting or about to start — once a week, free: studies that open, close, add sites or post results.
See an example email
Example · made-up studies
Breast cancer · Recruiting: 2 came in, 3 changed
What changed in your saved searches, Oct 31 – Nov 6:
A study of drug A after surgery for early breast cancer
Came in · now Recruiting
Drug B with hormone therapy in advanced breast cancer
Changed
· Sites: 4 added, including Seoul and Busan
· Enrollment: 300 → 450 participants
Exercise during chemotherapy
Now Active, not recruiting
One email a week for all your saved searches. Stop any time.
Status
Who runs them
University of Aarhus (8) · University of Colorado, Denver (7) · dr. Laura C. G. de Graaff-Herder (3) · University of Roma La Sapienza (2) · Hospices Civils de Lyon (2) · Progenity, Inc. (2) · Odense University Hospital (2) · Boston Children's Hospital (1)
What is being tested here
Drugs under test in Klinefelter Syndrome studies, those with the most open studies first. Medicines only given beside them are not counted. How drugs are counted
Coming up
Studies recruiting or running, from their records. “Main data collection” ends at the primary completion date, the sponsor’s own estimate, which often moves.
All 3, phase 3 first
- Apr 2027Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome · Phase 3 · Georgios Papadakis
- Dec 2026Growing up With the Young Endocrine Support System (YESS!) · dr. Laura C. G. de Graaff-Herder
- Nov 2027Hematological Profile in Children With Numerical Chromosomal Disorders · Assiut University
Who these studies take
Of the 11 Klinefelter Syndrome studies recruiting now, 2 (18%) set no upper age limit and 5 (45%) stop at 75 or younger. 7 (64%) take children under 18. 0 (0%) are for women only and 5 (45%) for men only; 2 (18%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 1 (9%) | 4 (36%) |
| 18 | 5 (45%) | 9 (82%) |
| 30 | 5 (45%) | 9 (82%) |
| 40 | 5 (45%) | 9 (82%) |
| 50 | 5 (45%) | 9 (82%) |
| 65 | 5 (45%) | 8 (73%) |
| 75 | 4 (36%) | 6 (55%) |
| 85 | 4 (36%) | 5 (45%) |
Across all 47 studies, recruiting or not: 64% stop at 75 or younger and 60% at 65; 60% take children; 6% are for women only and 60% for men only; 32% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
What changed recently
From the registry's own updates since Oct 14, 2026.
Newly registered1
Studies
Recruiting first, then most recently updated. Showing 47 of 47. search them.
- Hematological Profile in Children With Numerical Chromosomal DisordersNot yet recruitingNCT07807540
- A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome AneuploidiesRecruitingNCT07718997Phase 11 country
- Parent and Infant Inter(X)Action Intervention (PIXI)Enrolling by invitationNCT03836300Not applicable1 country
- Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter SyndromeRecruitingNCT05586802Phase 31 country
- Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome DisordersEnrolling by invitationNCT073414121 country
- Clinical and Genetic Aspects of Fetuses With Sex-chromosome DisordersEnrolling by invitationNCT073041931 country
- Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, RigshospitaletEnrolling by invitationNCT071421351 country
- Thyroid Function and Structure in Klinefelter SyndromeRecruitingNCT055811471 country
- Klinefelter Syndrome and Testosterone Treatment in PubertyRecruitingNCT06294990Phase 41 country
- The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome TrisomyRecruitingNCT033965621 country
- Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)RecruitingNCT063738611 country
- Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to GenotypeRecruitingNCT054259531 country
- The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed OocytesRecruitingNCT038090261 country
- Growing up With the Young Endocrine Support System (YESS!)Not yet recruitingNCT04252001Not applicable4 countries
- Turner And Klinefelter Treatment Target StudyRecruitingNCT048034741 country
- GROWing Up With Rare GENEtic SyndromesRecruitingNCT044633161 country
- Unraveling the Klinefelter's Disease PhysiopathologyRecruitingNCT05997706Not applicable1 country
- Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome AneuploidyCompletedNCT078851631 country
- Fertility Preservation in Cases of Klinefelter Syndrome.CompletedNCT01918280Not applicable1 country
- Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of LyonCompletedNCT066872521 country
- Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter SyndromeActive, not recruitingNCT05498090Phase 41 country
- TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXYCompletedNCT03325647Phase 41 country
- Cardiometabolic Profiles of Boys With Klinefelter SyndromeCompletedNCT027233051 country
- TyG Index Levels in Klinefelter SyndromeCompletedNCT05014997
- Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter SyndromeCompletedNCT01585831Not applicable1 country
- RA-2 13-cis Retinoic Acid (Isotretinoin)CompletedNCT02061384Phase 21 country
- Androgen Effect on Klinefelter Syndrome Motor OutcomeCompletedNCT00348946Phase 21 country
- Whole Blood Specimen Collection From Pregnant SubjectsStatus unknownNCT024305841 country
- Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone TreatmentCompletedNCT02408445Phase 41 country
- Adaptation Among Adolescents and Adults With Klinefelter SyndromeCompletedNCT008962721 country
- Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNACompletedNCT021097701 country
- Thrombosis and Neurocognition in Klinefelter SyndromeCompletedNCT025266281 country
- Expanded Noninvasive Genomic Medical Assessment: The Enigma StudyCompletedNCT027874861 country
- Skeletal Health of Klinefelter PatientsCompletedNCT03704987Not applicable1 country
- Androgen for Leydig Cell ProliferationCompletedNCT01206270Phase 2/31 country
- Fertility Assessment in Patients With Klinefelter SyndromeTerminatedNCT024613031 country
- Subcapsular Orchiectomy in Men With Klinefelter SyndromeCompletedNCT01750632Not applicable1 country
- Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter SyndromeCompletedNCT02788136Not applicable1 country
- X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT016782611 country
- Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter SyndromeWithdrawnNCT003474641 country
- Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter SyndromeCompletedNCT009993101 country
- Life Quality and Health in Patients With Klinefelter SyndromeCompletedNCT016900131 country
- Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell InjectionCompletedNCT02414295Not applicable1 country
- Klinefelter Fertility PreservationCompletedNCT01817296Not applicable1 country
- Epigenetics and Metabolic Disorders in Men With the Klinefelter SyndromeCompletedNCT01703676
- Non-Invasive Determination of Fetal Chromosome AbnormalitiesStatus unknownNCT008918521 country
- Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter SyndromeCompletedNCT005238351 country