Actively Recruiting
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2026-03-10
60
Participants Needed
19
Research Sites
915 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Female patients followed at Pediatric Endocrinology and Inherited Metabolic Disease Centers
- Born between January 1, 1980 and December 31, 2024
- Diagnosis of classic galactosemia confirmed by genetic testing
- Informed consent obtained
You will not qualify if you...
- Known chromosomal abnormalities such as trisomy 21, Turner syndrome, Fragile X syndrome, Kabuki syndrome, or other genetic conditions linked to pubertal disorders
- Primary ovarian insufficiency caused by conditions other than galactosemia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 19 locations
1
SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, Italy, 40138
Actively Recruiting
2
UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, Italy, 40138
Actively Recruiting
3
Ospedale Pediatrico "Giovanni XXIII"
Bari, Italy
Not Yet Recruiting
4
Ospedale Pediatrico Microcitemico "A. Cao"
Cagliari, Italy
Not Yet Recruiting
5
AOU Policlinico di Catania
Catania, Italy
Not Yet Recruiting
6
AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro
Catanzaro, Italy
Not Yet Recruiting
7
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence, Italy
Actively Recruiting
8
IRCCS Istituto G. Gaslini
Genova, Italy
Actively Recruiting
9
AOU Policlinico G. Martino
Messina, Italy
Not Yet Recruiting
10
ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano
Milan, Italy
Not Yet Recruiting
11
Ospedale dei Bambini "Vittore Buzzi"
Milan, Italy
Not Yet Recruiting
12
Fondazione IRCCS San Gerardo dei Tintori
Monza, Italy
Actively Recruiting
13
AORN Santobono Pausilipon
Naples, Italy
Not Yet Recruiting
14
Azienda Ospedaliera Universitaria "Federico II"
Naples, Italy
Not Yet Recruiting
15
Azienda Ospedale-Università di Padova
Padova, Italy
Not Yet Recruiting
16
Ospedale dei Bambini di Palermo
Palermo, Italy
Not Yet Recruiting
17
Ospedale Guglielmo da Saliceto
Piacenza, Italy
Actively Recruiting
18
Ospedale Pediatrico Bambin Gesù IRCCS
Roma, Italy
Actively Recruiting
19
Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino
Torino, Italy
Not Yet Recruiting
Research Team
R
Rita Ortolano
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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