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New study aims to unravel puberty and fertility challenges in girls with rare sugar disorder

NCT ID NCT07461519

Knowledge-focused Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna Source: ClinicalTrials.gov ↗

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope to identify factors that could help predict and manage these long-term issues.

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 60 people

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

Started

Feb 2025

Expected to finish

Aug 2042

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

Female patients followed at the participating Italian Centers of Pediatric Endocrinology and Inherited Metabolic Diseases, born between January 1980 and December 2024, with a genetically confirmed diagnosis of classic galactosemia. The observation period will continue for all participants until adulthood, expected by December 2041.

Ages

Up to 45 years

Sex

Female participants only

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: * Female patients followed at participating Pediatric Endocrinology and Inherited Metabolic Disease Centers, born between January 1st, 1980 and December 31st, 2024, with a diagnosis of classic galactosemia and confirmed by genetic testing. * Obtaining informed consent. Exclusion Criteria: * Patients with known chromosomal abnormalities (e.g., trisomy 21, Turner syndrome, Fragile X syndrome, Kabuki syndrome, or other genetic conditions associated with pubertal disorders); * Patients with primary ovarian insufficiency due to causes other than galactosemia.

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Conditions

The condition(s) this trial relates to.

classic galactosemia galactosemia

As listed by the trial registrant

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

Galactosemia

How to take part

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

  1. The places running it

    19 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

  • AORN Santobono Pausilipon

    NOT_YET_RECRUITING

    Naples, Italy

  • AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro

    NOT_YET_RECRUITING

    Catanzaro, Italy

  • AOU Policlinico G. Martino

    NOT_YET_RECRUITING

    Messina, Italy

  • AOU Policlinico di Catania

    NOT_YET_RECRUITING

    Catania, Italy

  • ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano

    NOT_YET_RECRUITING

    Milan, Italy

  • Azienda Ospedale-Università di Padova

    NOT_YET_RECRUITING

    Padova, Italy

  • Azienda Ospedaliera Universitaria "Federico II"

    NOT_YET_RECRUITING

    Naples, Italy

  • Azienda Ospedaliera Universitaria Meyer IRCCS

    RECRUITING

    Florence, Italy

  • Fondazione IRCCS San Gerardo dei Tintori

    RECRUITING

    Monza, Italy

  • IRCCS Istituto G. Gaslini

    RECRUITING

    Genova, Italy

  • Ospedale Guglielmo da Saliceto

    RECRUITING

    Piacenza, Italy

  • Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino

    NOT_YET_RECRUITING

    Torino, Italy

  • Ospedale Pediatrico "Giovanni XXIII"

    NOT_YET_RECRUITING

    Bari, Italy

  • Ospedale Pediatrico Bambin Gesù IRCCS

    RECRUITING

    Roma, Italy

  • Ospedale Pediatrico Microcitemico "A. Cao"

    NOT_YET_RECRUITING

    Cagliari, Italy

  • Ospedale dei Bambini "Vittore Buzzi"

    NOT_YET_RECRUITING

    Milan, Italy

  • Ospedale dei Bambini di Palermo

    NOT_YET_RECRUITING

    Palermo, Italy

  • SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Italy, 40138, Italy

  • UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Italy, 40138, Italy

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