GalactosemiaNCT07461519
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
An observational study of Galactosemia, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 19 sites in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 45 years, women only
- Conditions the study is for
- Galactosemia
- How many people
- 60 participants
- Where
- 19 sitesItaly
- Study dates
- 12 Feb 2025to 31 Aug 2042
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 45 years
- Women only
- No healthy volunteers
- Child, Adult
Study population: Female patients followed at the participating Italian Centers of Pediatric Endocrinology and Inherited Metabolic Diseases, born between January 1980 and December 2024, with a genetically confirmed diagnosis of classic galactosemia. The observation period will continue for all participants until adulthood, expected by December 2041.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
19 sites in 1 country. Contact the study team or a site near you to ask about taking part.
19 sites in 1 country
Italy19 sites, 19 recruiting
- Not yet recruiting
Ospedale Pediatrico "Giovanni XXIII"
Bari
Albina Tummolo, albina.tummolo@policlinico.ba.it
- Recruiting
SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138
Lucia Brodosi, lucia.brodosi2@unibo.it
- Recruiting
UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138
Rita Ortolano, 00390512144816, rita.ortolano@aosp.bo.it
- Not yet recruiting
Ospedale Pediatrico Microcitemico "A. Cao"
Cagliari
Chiara Guzzetti, chiara.guzzetti@aob.it
- Not yet recruiting
AOU Policlinico di Catania
Catania
Concetta Meli, cmeli@policlinico.unict.it
- Not yet recruiting
AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro
Catanzaro
Daniela Concolino, dconcolino@unicz.it
- Recruiting
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence
Flavia Tubili, flavia.tubili@meyer.it
- Recruiting
IRCCS Istituto G. Gaslini
Genova
Annalisa Madeo, annalisamadeo@gaslini.org
- Not yet recruiting
AOU Policlinico G. Martino
Messina
Tommaso Aversa, tommaso.aversa@unime.it
- Not yet recruiting
ASST Santi Paolo e Carlo - Presidio San Paolo - Università degli studi di Milano
Milan
Sabrina Paci, sabrina.paci@asst-santipaolocarlo.it
- Not yet recruiting
Ospedale dei Bambini "Vittore Buzzi"
Milan
Elvira Verduci, elvira.verduci@unimi.it
- Recruiting
Fondazione IRCCS San Gerardo dei Tintori
Monza
Alessandro Cattoni, alessandro.cattoni@unimb.it
- Not yet recruiting
AORN Santobono Pausilipon
Naples
Maria Teresa Carbone, mt.carbone@santobonopausilipon.it
- Not yet recruiting
Azienda Ospedaliera Universitaria "Federico II"
Naples
Alessandro Rossi, alessandro.rossi@unina.it
- Not yet recruiting
Azienda Ospedale-Università di Padova
Padova
Alberto Burlina, alberto.burlina@unipd.it
- Not yet recruiting
Ospedale dei Bambini di Palermo
Palermo
Antonella di Fiore, antonella.difiore@arnascivico.it
- Recruiting
Ospedale Guglielmo da Saliceto
Piacenza
Giuseppe Cannalire, g.cannalire@ausl.pc.it
- Recruiting
Ospedale Pediatrico Bambin Gesù IRCCS
Roma
Arianna Maiorana, arianna.maiorana@opbg.net
- Not yet recruiting
Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino
Torino
Francesco Porta, francesco.porta@unito.it
About this study
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.
Read the detailed description
Newborn screening for galactosemia and adherence to a galactose-free diet have greatly reduced acute neonatal symptoms, leading to high survival rates. However, despite good therapeutic compliance, long-term complications-especially primary ovarian insufficiency (POI) and its related morbidity-remain common. Because galactosemia is rare, identifying factors underlying ovarian dysfunction and fertility-preservation options has been challenging. A large, homogeneous multicenter Italian study could help clarify unresolved aspects of POI in females with classic galactosemia.
Primary aims:
- Compare clinical, auxological, and hormonal features of girls with galactosemia to those of the general population at key stages of pubertal development.
- Identify potential factors contributing to POI.
- Describe fertility-related characteristics in affected patients.
Secondary aims:
- Determine the proportion of patients who reach their familial height target.
- Assess quality of life and psycho-emotional adjustment.
- Evaluate psychomotor and cognitive development.
- Conditions
- Galactosemia
- Keywords
- galactosemia
- Medical subject headings
- Galactosemias
What is being measured
The primary outcome is the main question the study is designed to answer.
To compare clinical and auxological features, as well as hormonal levels, of patients with a diagnosis of classic galactosemia with those of the general population at key stages of pubertal development
Mean laboratoristic parametres (FSH, LH, estradiol, AMH, inhibin-B)
Measured: During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia
Presence of POI (yes/no)
Measured: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)
Secondary outcomes (1)
To determine the proportion of patients with classic galactosemia who achieve their familial height target
Final Height (cm)
Measured: at adulthood (before Menopause)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Mar 2026
- Study start12 Feb 2025
- Primary completion28 Feb 2042 (estimated)
- Study completion31 Aug 2042 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GalactosemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Rita Ortolano, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07461519
- Sponsor's protocol ID
- IpoGAL24
- Status last verified
- Feb 2026
- First submitted
- 17 Feb 2026
- Last updated
- 10 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
- ClinicalTrials.gov ID
- NCT07461519
- Acronym / sponsor ID
- IpoGAL24
- Conditions
- Galactosemia
- Keywords
- galactosemia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 12 Feb 2025 (actual)
- Primary completion
- 28 Feb 2042 (estimated)
- Study completion
- 31 Aug 2042 (estimated)
- First posted
- 10 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Newborn screening for galactosemia and adherence to a galactose-free diet have greatly reduced acute neonatal symptoms, leading to high survival rates. However, despite good therapeutic compliance, long-term complications-especially primary ovarian insufficiency (POI) and its related morbidity-remain common. Because galactosemia is rare, identifying factors underlying ovarian dysfunction and fertility-preservation options has been challenging. A large, homogeneous multicenter Italian study could help clarify unresolved aspects of POI in females with classic galactosemia.
Primary aims:
- Compare clinical, auxological, and hormonal features of girls with galactosemia to those of the general population at key stages of pubertal development.
- Identify potential factors contributing to POI.
- Describe fertility-related characteristics in affected patients.
Secondary aims:
- Determine the proportion of patients who reach their familial height target.
- Assess quality of life and psycho-emotional adjustment.
- Evaluate psychomotor and cognitive development.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- Up to 45 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Female patients followed at the participating Italian Centers of Pediatric Endocrinology and Inherited Metabolic Diseases, born between January 1980 and December 2024, with a genetically confirmed diagnosis of classic galactosemia. The observation period will continue for all participants until adulthood, expected by December 2041.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To compare clinical and auxological features, as well as hormonal levels, of patients with a diagnosis of classic galactosemia with those of the general population at key stages of pubertal development
Time frame: During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).
Mean laboratoristic parametres (FSH, LH, estradiol, AMH, inhibin-B)
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia
Time frame: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)
Presence of POI (yes/no)
1 secondary outcome
To determine the proportion of patients with classic galactosemia who achieve their familial height target
Time frame: at adulthood (before Menopause)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2026.
Related trials for Galactosemia
RecruitingObservational study
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Turner Syndrome, Post-menarcheal Adolescents
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
19 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Galactosemia, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 19 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 19 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rita Ortolano (00390512144816, rita.ortolano@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To compare clinical and auxological features, as well as hormonal levels, of patients with a diagnosis of classic galactosemia with those of the general population at key stages of pubertal development (time frame: During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Mar 2026.