Gonadal function and pubertal development in girls with classic galactosemia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a large multicenter Italian observational cohort of genetically confirmed female patients with classic galactosemia, aiming to document clinical, auxological, hormonal, developmental, and fertility-related features across key pubertal stages. Data will be compared with general population references and analyzed to identify factors associated with primary ovarian insufficiency (POI). The study includes standardized clinical visits and retrospective and prospective data collection from participating Pediatric Endocrinology and Metabolic Disease centers. Secondary outcomes include final height relative to familial targets, quality of life, psycho-emotional adjustment, and cognitive/psychomotor development.

Why it matters

Who can join: the full rules

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.

Where it's running

• SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Italy, Italy Recruiting
• UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Italy, Italy Recruiting
• Azienda Ospedaliera Universitaria Meyer IRCCS
  Florence, Italy Recruiting
• IRCCS Istituto G. Gaslini
  Genova, Italy Recruiting
• Fondazione IRCCS San Gerardo dei Tintori
  Monza, Italy Recruiting
• Ospedale Guglielmo da Saliceto
  Piacenza, Italy Recruiting

Study contacts

• Study coordinator: Rita Ortolano
• Email: rita.ortolano@aosp.bo.it
• Phone: 00390512144816

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.