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
26 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying female patients with classic galactosemia to better understand long-term complications such as primary ovarian insufficiency (POI), which affects ovarian function and fertility. Despite improvements in early outcomes through newborn screening and a galactose-free diet, POI remains a significant concern. This large multicenter Italian observational study aims to clarify clinical, hormonal, developmental, and fertility-related factors in affected girls and women. The study involves female patients diagnosed with classic galactosemia confirmed by genetic testing, born between 1980 and 2024, and followed at specialized centers. It compares their pubertal development, clinical features, and hormone levels with those of the general population at key stages including infancy, childhood, puberty, and adulthood before menopause. It also investigates factors contributing to POI and describes fertility characteristics, as well as evaluating height achievement, quality of life, psycho-emotional adjustment, and cognitive development. Participants will undergo assessments at different life stages focusing on clinical and auxological features, hormonal profiles, and developmental evaluations. Researchers will track growth relative to familial targets and assess quality of life and emotional well-being. Outcomes include identifying POI-related factors and fertility status. The study spans from infancy through adulthood up to age 45, with ongoing observation to enhance understanding of galactosemia's impact on female reproductive health.
CONDITIONS
Brief 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 participating 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, or Kabuki syndrome
- Primary ovarian insufficiency caused by factors other than galactosemia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - From 3 months to adulthood before menopause
Participants undergo assessments to compare clinical, auxological, and hormonal features at key stages of pubertal development.
Visits scheduled according to participant's age group and development stage
Duration - Up to adulthood before menopause
Participants are observed over time to identify factors contributing to primary ovarian insufficiency and to assess fertility-related and growth outcomes.
Periodic visits depending on age and clinical status
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
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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