NCT07461519

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 60 (estimated)
• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna · Academic / Other
• Sex: Female
• Age: 45 Years
• Healthy volunteers: Not accepted

Summary

Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant. This study aims to clarify clinical, hormonal, developmental, and fertility-related factors in affected girls through a large multicenter Italian cohort.

Detailed description

Newborn screening for galactosemia and adherence to a galactose-free diet have greatly reduced acute neonatal symptoms, leading to high survival rates. However, despite good therapeutic compliance, long-term complications-especially primary ovarian insufficiency (POI) and its related morbidity-remain common. Because galactosemia is rare, identifying factors underlying ovarian dysfunction and fertility-preservation options has been challenging. A large, homogeneous multicenter Italian study could help clarify unresolved aspects of POI in females with classic galactosemia. Primary aims: * Compare clinical, auxological, and hormonal features of girls with galactosemia to those of the general population at key stages of pubertal development. * Identify potential factors contributing to POI. * Describe fertility-related characteristics in affected patients. Secondary aims: * Determine the proportion of patients who reach their familial height target. * Assess quality of life and psycho-emotional adjustment. * Evaluate psychomotor and cognitive development.

Conditions

• Galactosemia

Timeline

• Start date: 2025-02-12
• Primary completion: 2042-02-28
• Completion: 2042-08-31
• First posted: 2026-03-10
• Last updated: 2026-03-10

Locations

19 sites across 1 country: Italy