NCT07461519|Recruiting
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Sponsor study identifier
observational
60
1 country
19
Study Start
February 12, 2025
Actual (reported)Primary Completion
February 28, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
August 31, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
August 31, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
February 12, 2025
Actual (reported)February 17, 2026
Actual (reported)March 10, 2026
Actual (reported)February 28, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
August 31, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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)
To determine the proportion of patients with classic galactosemia who achieve their familial height target
at adulthood (before Menopause)
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.
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
First Submitted
February 17, 2026
First Posted
March 10, 2026
Study Start
February 12, 2025
Actual (reported)Primary Completion
February 28, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Contact the study team to confirm eligibility.
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
Padova, 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
Study Completion
August 31, 2042
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
March 10, 2026
Record last verified: 2026-02
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