Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Galactosemia. Basic parameters: up to 45 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- 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 [Time frame: 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 [Time frame: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)]
Secondary outcome measures (1)
- To determine the proportion of patients with classic galactosemia who achieve their familial height target [Time frame: at adulthood (before Menopause)]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 19 centers
- SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna
- UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna
- Ospedale Pediatrico "Giovanni XXIII" — Bari
- Ospedale Pediatrico Microcitemico "A. Cao" — Cagliari
- AOU Policlinico di Catania — Catania
- AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro — Catanzaro
- Azienda Ospedaliera Universitaria Meyer IRCCS — Florence
- IRCCS Istituto G. Gaslini — Genova
- … and 11 more centers
Identifiers
NCT: NCT07461519 · IpoGAL24