Pregnancy Chances in Classic Galactosemia

Maastricht University Medical Centre (MUMC)

Status: Completed

Conditions: Primary Ovarian Insufficiency; Galactosemias

Study type: Observational

Funder types: Other

Identifiers

NCT02091128

METC 13-4-127

Details and patient eligibility

About

With this study, in which the incidence of pregnancy in classic galactosemia patients is studied, we aim to provide new insights to improve counselling. Our hypothesis is that the chance that a galactosemic woman with POI becomes pregnant is higher than the 5-10% that has been reported for women with POI due to other causes. Chance of spontaneous pregnancy will be evaluated through semi standardized interview in women with classic galactosemia aged 18 years or older. During the interview, questions will be asked regarding fertility and pregnancy.

Enrollment: 85 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Classic galactosemia diagnosed by GALT enzyme activity assay or GALT-gene mutation analysis
• Eighteen years of age or older
• Diagnosed with POI defined as symptoms of hypergonadotrophic hypogonadism measured by serum concentrations of FSH and estradiol
• Capable of giving informed consent

Exclusion criteria

• Any known congenital or acquired disease or disorder negatively affecting pubertal development and/or fertility.

Trial design

85 participants in 1 patient group

Females with classic galactosemia and POI