Pregnancy Chances in Classic Galactosemia

Completed

• Conditions: Primary Ovarian Insufficiency; Galactosemias

• Registration Number: NCT02091128
• Lead Sponsor: Maastricht University Medical Center

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-03
• Study First Submitted: 2014-03-13
• Study First Submitted QC: 2014-03-17
• Study First Posted: 2014-03-19
• Status Verified: 2016-09
• Primary Completion: 2016-09
• Study Completion: 2016-09
• Last Update Submitted: 2016-09-12
• Last Update Posted: 2016-09-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 85

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Pregnancy incidence despite POI diagnosis	day 1	Will be assessed during semi-standardized interview

Secondary Outcome Measures

Name	Time	Method
Hormonal replacement therapy usage	day 1	Will be assessed during semi-standardized interview
Menstrual history	day 1	Will be assessed during semi-standardized interview
Whether women have tried to conceive	day 1	Will be assessed during semi-standardized interview
Time to pregnancy (in case a participant has been pregnant)	day 1	Will be assessed during semi-standardized interview

Trial Locations

Locations (1)

Maastricht University Medical Center; 🇳🇱 Maastricht, Netherlands