Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

ClinicalTrials.gov ID

NCT07461519

Lead Sponsor

IRCCS Azienda Ospedaliero-Universitaria di BolognaOTHER

Overall Status

Recruiting

Study Type

Observational

Enrollment

60Estimated

Last Update Posted

Mar 10, 2026Actual

Start Date

Feb 12, 2025Actual

Primary Completion Date

Feb 28, 2042Estimated

Completion Date

Aug 31, 2042Estimated

Official Title

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

Brief 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.

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.

• Galactosemia

Ages Eligible for Study

Child (0-17)Adult (18-64)

Sexes Eligible for Study

Female

Accepts Healthy Volunteers

No

Eligibility Criteria

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.

Observational Model

Cohort

Time Perspective

Other

Lead Sponsor

IRCCS Azienda Ospedaliero-Universitaria di BolognaOTHER

albina.tummolo@policlinico.ba.it

chiara.guzzetti@aob.it

cmeli@policlinico.unict.it

flavia.tubili@meyer.it

annalisamadeo@gaslini.org

tommaso.aversa@unime.it

elvira.verduci@unimi.it

alessandro.cattoni@unimb.it

mt.carbone@santobonopausilipon.it

alberto.burlina@unipd.it

antonella.difiore@arnascivico.it

g.cannalire@ausl.pc.it

arianna.maiorana@opbg.net

• Pregnancy Chances in Classic Galactosemia

  NCT02091128

  CompletedObservationalUpdated Sep 13, 2016
• Glycosylation in Patients With Galactosaemia

  NCT02218632

  CompletedInterventionalNot ApplicableUpdated Aug 18, 2014
• Inactive FSH in Galactosemia

  NCT00619333

  Unknown statusInterventionalNot ApplicableUpdated Jan 12, 2010
• Comprehensive Assessment of Clinical Characteristics and Outcomes of Gemelli Adolescents and Young Adults

  NCT06594471

  Not yet recruitingObservationalUpdated Sep 19, 2024
• Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome

  NCT01113385

  CompletedInterventionalNot ApplicableUpdated Sep 15, 2014
• Prognosis and Long Term Pubertal Outcome of Girls Previously Diagnosed With a Prenatal Ovarian Cyst

  NCT02482467

  TerminatedInterventionalNot ApplicableUpdated May 16, 2025