Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

March 6, 2026 updated by: Rita Ortolano, IRCCS Azienda Ospedaliero-Universitaria di Bologna
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.

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Bari, Italy
      • Cagliari, Italy
        • Not yet recruiting
        • Ospedale Pediatrico Microcitemico "A. Cao"
        • Contact:
      • Catania, Italy
      • Catanzaro, Italy
        • Not yet recruiting
        • AOU "Dulbecco", Policlinico Germaneto-Università di Catanzaro
        • Contact:
      • Florence, Italy
        • Recruiting
        • Azienda Ospedaliera Universitaria Meyer IRCCS
        • Contact:
      • Genova, Italy
      • Messina, Italy
      • Milan, Italy
      • Milan, Italy
      • Monza, Italy
      • Napoli, Italy
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria "Federico II"
        • Contact:
      • Napoli, Italy
      • Padua, Italy
      • Palermo, Italy
      • Piacenza, Italy
      • Roma, Italy
      • Torino, Italy
        • Not yet recruiting
        • Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino
        • Contact:
    • Italy
      • Bologna, Italy, Italy, 40138
        • Recruiting
        • SSD Nutrizione Clinica e Metabolismo - IRCCS Azienda Ospedaliero-Universitaria di Bologna
        • Contact:
      • Bologna, Italy, Italy, 40138
        • Recruiting
        • UOC Pediatria - IRCCS Azienda Ospedaliero-Universitaria di Bologna
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

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.

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
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
Time Frame: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)
Presence of POI (yes/no)
At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To determine the proportion of patients with classic galactosemia who achieve their familial height target
Time Frame: at adulthood (before Menopause)
Final Height (cm)
at adulthood (before Menopause)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 12, 2025

Primary Completion (Estimated)

February 28, 2042

Study Completion (Estimated)

August 31, 2042

Study Registration Dates

First Submitted

February 17, 2026

First Submitted That Met QC Criteria

March 6, 2026

First Posted (Actual)

March 10, 2026

Study Record Updates

Last Update Posted (Actual)

March 10, 2026

Last Update Submitted That Met QC Criteria

March 6, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IpoGAL24

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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