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Clinical Trials in Italy / NCT07461519
Recruiting Observational

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

NCT07461519 · tracked via the Priya Life Science Italy tracker
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phase
Observational
Started
2025-02-12
Last updated
2026-03-10

Condition(s) studied

Galactosemia

Study 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.

Eligibility

Sex
FEMALE
Min age
—
Max age
45 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

  • 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)

Trial sites (19)

FacilityCityRegionStatus
SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Italy Recruiting
UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna 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

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07461519 on ClinicalTrials.gov ↗ ← All trials in Italy