Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
1 other identifier
observational
60
1 country
19
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Feb 2025
Longer than P75 for all trials
19 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 12, 2025
CompletedFirst Submitted
Initial submission to the registry
February 17, 2026
CompletedFirst Posted
Study publicly available on registry
March 10, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 28, 2042
ExpectedStudy Completion
Last participant's last visit for all outcomes
August 31, 2042
March 10, 2026
February 1, 2026
17.1 years
February 17, 2026
March 6, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
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
Mean laboratoristic parametres (FSH, LH, estradiol, AMH, inhibin-B)
During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia
Presence of POI (yes/no)
At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)
Secondary Outcomes (1)
To determine the proportion of patients with classic galactosemia who achieve their familial height target
at adulthood (before Menopause)
Eligibility Criteria
Female patients followed at the participating Italian Centers of Pediatric Endocrinology and Inherited Metabolic Diseases, born between January 1980 and December 2024, with a genetically confirmed diagnosis of classic galactosemia. The observation period will continue for all participants until adulthood, expected by December 2041.
You may qualify if:
- 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.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (19)
SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138, Italy
UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138, Italy
Ospedale Pediatrico "Giovanni XXIII"
Bari, Italy
Ospedale Pediatrico Microcitemico "A. Cao"
Cagliari, Italy
AOU Policlinico di Catania
Catania, Italy
AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro
Catanzaro, Italy
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence, Italy
IRCCS Istituto G. Gaslini
Genova, Italy
AOU Policlinico G. Martino
Messina, Italy
ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano
Milan, Italy
Ospedale dei Bambini "Vittore Buzzi"
Milan, Italy
Fondazione IRCCS San Gerardo dei Tintori
Monza, Italy
AORN Santobono Pausilipon
Naples, Italy
Azienda Ospedaliera Universitaria "Federico II"
Naples, Italy
Azienda Ospedale-Università di Padova
Padua, Italy
Ospedale dei Bambini di Palermo
Palermo, Italy
Ospedale Guglielmo da Saliceto
Piacenza, Italy
Ospedale Pediatrico Bambin Gesù IRCCS
Roma, Italy
Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino
Torino, Italy
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD
Study Record Dates
First Submitted
February 17, 2026
First Posted
March 10, 2026
Study Start
February 12, 2025
Primary Completion (Estimated)
February 28, 2042
Study Completion (Estimated)
August 31, 2042
Last Updated
March 10, 2026
Record last verified: 2026-02