Pregnancy Chances in Classic Galactosemia

Primary Ovarian Insufficiency Clinical Trial

Official title:

Pregnancy Chances in Classic Galactosemia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02091128
• Other study ID #: METC 13-4-127
• Status: Completed
• Phase: N/A
• First received: March 13, 2014
• Last updated: September 12, 2016
• Start date: March 2014
• Est. completion date: September 2016

Study information

• Verified date: September 2016
• Source: Maastricht University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Health authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 85
• Est. completion date: September 2016
• Est. primary completion date: September 2016
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Observational Model: Cohort, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Galactosemias
• Gonadal Dysgenesis
• Primary Ovarian Insufficiency
• Turner Syndrome

Locations

Country	Name	City	State
Netherlands	Maastricht University Medical Center	Maastricht

Sponsors (1)

Lead Sponsor	Collaborator
Maastricht University Medical Center

Country where clinical trial is conducted

Netherlands, 

References & Publications (1)

Gubbels CS, Land JA, Rubio-Gozalbo ME. Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv. 2008 May;63(5):334-43. doi: 10.1097/OGX.0b013e31816ff6c5. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Pregnancy incidence despite POI diagnosis	Will be assessed during semi-standardized interview	day 1	No
Secondary	Whether women have tried to conceive	Will be assessed during semi-standardized interview	day 1	No
Secondary	Time to pregnancy (in case a participant has been pregnant)	Will be assessed during semi-standardized interview	day 1	No
Secondary	Menstrual history	Will be assessed during semi-standardized interview	day 1	No
Secondary	Hormonal replacement therapy usage	Will be assessed during semi-standardized interview	day 1	No