Condition (MeSH)
Klinefelter Syndrome
ClinicalTrials.gov lists 46 trials for Klinefelter Syndrome or a narrower condition beneath it. Progenity, Inc. has the most among industry and government lead sponsors, with 2.
Search trials, drugs, companies and investigators, and follow each one to the others. Individual plan, $249/seat/mo. Card required.
Trials per phase (log scale)
46 of the 46 trials are tagged with Klinefelter Syndrome itself; the rest are tagged with a narrower condition beneath it.
When did Klinefelter Syndrome trials start? (17)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 2
- Phase 2/3
- Phase 3
- Phase 4
- Not applicable
- Observational
Top of scale: 6
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2026 (partial year) | 2 |
| 2025 | 1 |
| 2024 | 4 |
| 2023 | 2 |
| 2022 | 3 |
| 2018 | 4 |
| 2017 | 2 |
| 2016 | 2 |
| 2015 | 6 |
| 2014 | 1 |
Showing 10 of 17 earlier years.
No forecast is made for this condition: it averages 2.4 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: 4 trials still running at the 2026-10-09 snapshot, fewer than the 5 needed for a median. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Klinefelter Syndrome trials in? (7)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 1 |
| Phase 2 | 2 |
| Phase 2/3 | 1 |
| Phase 3 | 1 |
| Phase 4 | 4 |
| Not applicable | 10 |
| Observational | 27 |
How many Klinefelter Syndrome trials are recruiting? (7)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Not yet recruiting | 2 |
| Recruiting | 7 |
| Enrolling by invitation | 4 |
| Completed | 24 |
| Terminated | 1 |
Showing 5 of 7 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Klinefelter Syndrome trials? (2)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| Progenity, Inc. | 2 |
| Lenetix Medical Screening Laboratory | 1 |
Which drugs are being tested for Klinefelter Syndrome? (4)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| Anastrozole | 1 |
| Semaglutide | 1 |
| Castor Oil | 1 |
| Calcitriol | 1 |
Interventions as named in the registry (10)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| r-hCG | 2 |
| Testosterone Gel | 2 |
| CIP-Isotretinoin | 1 |
| Testosteron | 1 |
| Fenofibrate IDD-P (Insoluble Drug Delivery-Micro Particle) | 1 |
Showing 5 of 10 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which publications cover Klinefelter Syndrome? (56)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Effect of testosterone treatment during puberty in boys with Klinefelter syndrome (The TIPY Study): protocol for a nationwide randomised, double-blinded, placebo-controlled study. | BMJ open | 2025 | Yes |
| Long-term culture of human Sertoli cells from adult Klinefelter patients as a first step to develop new tools for unravelling the testicular physiopathology. | Human reproduction (Oxford, England) | 2024 | Yes |
| A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. | American journal of medical genetics. Part A | 2023 | Yes |
| Leflutrozole in male obesity-associated hypogonadotropic hypogonadism: Ph 2b double-blind randomised controlled trial. | European journal of endocrinology | 2023 | Yes |
| Does hormonal therapy improve sperm retrieval rates in men with non-obstructive azoospermia: a systematic review and meta-analysis. | Human reproduction update | 2022 | Yes |
Showing 5 of 56 publications.
Prevalence (4)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| 48,XXYY syndrome | Prevalence at birth | 1-9 / 100 000 | Europe | Not stated | Exact |
| 48,XXYY syndrome | Point prevalence | Unknown | Worldwide | Not stated | Exact |
| 48,XXYY syndrome | Point prevalence | Unknown | Worldwide | Not stated | Exact |
| 48,XXYY syndrome | Prevalence at birth | 1-9 / 100 000 | Europe | Not stated | Exact |
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| 48,XXYY syndrome | 10 | Exact | Orphadata Science knowledge files, Product 1 |
| 48,XXYY syndrome | 10 | Exact | Orphanet Rare Disease Ontology (ORDO) |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: serious adverse events in this condition's trials and sub-conditions in mesh.