Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Status: Recruiting
Location: See all (19) locations...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: Female
Maximum Age: 45
Healthy Volunteers: f
View:
• 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.
Locations
Other Locations
Italy
Ospedale Pediatrico Giovanni XXIII
NOT_YET_RECRUITING
Bari
SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITING
Bologna
UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITING
Bologna
Ospedale Pediatrico Microcitemico A. Cao
NOT_YET_RECRUITING
Cagliari
AOU Policlinico di Catania
NOT_YET_RECRUITING
Catania
AOU Dulbecco, Policlinico Germaneto-Università di Catanzaro
NOT_YET_RECRUITING
Catanzaro
Azienda Ospedaliera Universitaria Meyer IRCCS
RECRUITING
Florence
IRCCS Istituto G. Gaslini
RECRUITING
Genova
AOU Policlinico G. Martino
NOT_YET_RECRUITING
Messina
ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano
NOT_YET_RECRUITING
Milan
Ospedale dei Bambini Vittore Buzzi
NOT_YET_RECRUITING
Milan
Fondazione IRCCS San Gerardo dei Tintori
RECRUITING
Monza
AORN Santobono Pausilipon
NOT_YET_RECRUITING
Naples
Azienda Ospedaliera Universitaria Federico II
NOT_YET_RECRUITING
Naples
Azienda Ospedale-Università di Padova
NOT_YET_RECRUITING
Padova
Ospedale dei Bambini di Palermo
NOT_YET_RECRUITING
Palermo
Ospedale Guglielmo da Saliceto
RECRUITING
Piacenza
Ospedale Pediatrico Bambin Gesù IRCCS
RECRUITING
Roma
Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino
NOT_YET_RECRUITING
Torino
Contact Information
Primary
Rita Ortolano
rita.ortolano@aosp.bo.it
00390512144816
Time Frame
Start Date: 2025-02-12
Estimated Completion Date: 2042-08-31
Participants
Target number of participants: 60
Related Therapeutic Areas
Sponsors
Leads: IRCCS Azienda Ospedaliero-Universitaria di Bologna