Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Recruiting now
Conditions studied: Galactosemia
In brief
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.
Key facts
- Study ID
- NCT07461519
- Run by
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- People needed
- 60
- Starts
- 2025-02-12
- Expected to finish
- 2042-08-31
- Last updated by the study team
- 2026-03-10
Who can join
Age: any, up to 45. Sex: female. Healthy volunteers: not accepted.
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.
Where it is running
- UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy, Italy (enrolling)
- Azienda Ospedaliera Universitaria Meyer IRCCS — Florence, Italy (enrolling)
- IRCCS Istituto G. Gaslini — Genova, Italy (enrolling)
- Fondazione IRCCS San Gerardo dei Tintori — Monza, Italy (enrolling)
- Ospedale Guglielmo da Saliceto — Piacenza, Italy (enrolling)
- Ospedale Pediatrico Bambin Gesù IRCCS — Roma, Italy (enrolling)
- SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy, Italy (enrolling)
- Ospedale dei Bambini "Vittore Buzzi" — Milan, 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 Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino — Torino, 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
- AOU Policlinico G. Martino — Messina, Italy
- ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano — Milan, Italy
Full record on ClinicalTrials.gov
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