Gonadal function and pubertal development in girls with classic galactosemia

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

This project will collect clinical, hormone, growth, and fertility information on girls and young women with classic galactosemia to see if specific factors are linked to ovarian insufficiency and pubertal outcomes.

Quick facts

• Study type: Observational
• Enrollment: 60 (estimated)
• Ages: N/A to 45 Years
• Sex: Female
• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna (other)
• Locations: 19 sites (Bologna, Italy and 18 other locations)
• Trial ID: NCT07461519 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Female patients born between January 1, 1980 and December 31, 2024 with genetically confirmed classic galactosemia who are followed at participating Pediatric Endocrinology or Inherited Metabolic Disease centers and can provide informed consent.

Not a fit: Patients with known chromosomal abnormalities, ovarian insufficiency from other causes, males, or those without genetic confirmation of classic galactosemia are unlikely to benefit from the study's specific findings.

Why it matters

Potential benefit: If successful, the study could identify predictors of ovarian insufficiency and inform timing and options for fertility preservation and reproductive counseling for affected women.

How similar studies have performed: Previous smaller single-center reports and case series have repeatedly shown high rates of ovarian dysfunction in classic galactosemia, but large homogeneous multicenter cohorts addressing risk factors and fertility features have been lacking.

Eligibility criteria

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 this trial is running

Bologna, Italy and 18 other locations

• 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)
• Ospedale Pediatrico "Giovanni XXIII" — Bari, Italy (NOT_YET_RECRUITING)
• Ospedale Pediatrico Microcitemico "A. Cao" — Cagliari, Italy (NOT_YET_RECRUITING)
• AOU Policlinico di Catania — Catania, Italy (NOT_YET_RECRUITING)
• AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro — Catanzaro, Italy (NOT_YET_RECRUITING)
• Azienda Ospedaliera Universitaria Meyer IRCCS — Florence, Italy (RECRUITING)
• IRCCS Istituto G. Gaslini — Genova, Italy (RECRUITING)
• AOU Policlinico G. Martino — Messina, Italy (NOT_YET_RECRUITING)
• ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano — Milan, Italy (NOT_YET_RECRUITING)
• Ospedale dei Bambini "Vittore Buzzi" — Milan, Italy (NOT_YET_RECRUITING)
• Fondazione IRCCS San Gerardo dei Tintori — Monza, Italy (RECRUITING)
• AORN Santobono Pausilipon — Naples, Italy (NOT_YET_RECRUITING)
• Azienda Ospedaliera Universitaria "Federico II" — Naples, Italy (NOT_YET_RECRUITING)
• Azienda Ospedale-Università di Padova — Padova, Italy (NOT_YET_RECRUITING)
• Ospedale dei Bambini di Palermo — Palermo, Italy (NOT_YET_RECRUITING)
• Ospedale Guglielmo da Saliceto — Piacenza, Italy (RECRUITING)
• Ospedale Pediatrico Bambin Gesù IRCCS — Roma, Italy (RECRUITING)
• Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino — Torino, Italy (NOT_YET_RECRUITING)

Study contacts

• Study coordinator: Rita Ortolano

Conditions: Galactosemia, galactosemia