Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 19
- 主要终点
- 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
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 45 Years（Child, Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
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
时间窗: 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
时间窗: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)
Presence of POI (yes/no)
次要结局
- To determine the proportion of patients with classic galactosemia who achieve their familial height target(at adulthood (before Menopause))
研究者
Rita Ortolano
MD
IRCCS Azienda Ospedaliero-Universitaria di Bologna