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Italian study aims to map rare sex development condition

NCT ID NCT06723938

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is collecting information from 520 children and teens in Italy with 46, XY DSD, a rare condition where a person's chromosomes don't match their physical sex development. Researchers will look at medical records to understand how common different features are and how the condition changes over time. No new treatments are being tested; the goal is simply to learn more about the condition.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 520 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2021

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients aged \< 18 years at diagnosis of 46,XY DSD who referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, since 01/01/1991 or to other participating italian centres since 01/01/2000.

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Karyotype 46,XY DSD; * Genital ambiguity signs assessed on the basis of clinical phenotype and EMS/EGS for karyotype 46,XY DSD; * Age \< 18 years at diagnosis of 46,XY DSD; * Patients referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna since 01/01/1991 or to other participating centres since 01/01/2000; * Obtaining informed consent from patients or from parents/legal guardian of pediatric patients. Exclusion Criteria: • None.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    4 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Azienda Ospedaliero Universitaria Pisana

    NOT_YET_RECRUITING

    Pisa, Pisa, 56126, Italy

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Bologna, 40138, Italy

  • IRCCS Ospedale San Raffaele

    NOT_YET_RECRUITING

    Milan, Milano, 20132, Italy

  • Ospedale Pediatrico Bambino Gesù

    NOT_YET_RECRUITING

    Roma, Roma, 00165, Italy