Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07461519

Enrollment

Registered

2026-03-10

Start date

2025-02-12

Completion date

2042-08-31

Last updated

2026-03-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Galactosemia

Keywords

galactosemia

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

FEMALE

Age

No minimum to 45 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
To compare clinical and auxological features, as well as hormonal levels, of patients with a diagnosis of classic galactosemia with those of the general population at key stages of pubertal development	During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).	Mean laboratoristic parametres (FSH, LH, estradiol, AMH, inhibin-B)
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia	At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)	Presence of POI (yes/no)

Secondary

Measure	Time frame	Description
To determine the proportion of patients with classic galactosemia who achieve their familial height target	at adulthood (before Menopause)	Final Height (cm)

Countries

Italy

Contacts

CONTACTRita Ortolano

rita.ortolano@aosp.bo.it00390512144816

Outcome results