Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Recruiting
Observational Study
Galactosemia
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 45
- Sex
- Female
- Study type
- Observational
- Participants needed
- 60 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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 Locations
Loading…
Loading trial locations…
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.
Exclusio…
Contacts