Pregnancy Chances in Classic Galactosemia

NCT02091128 | Completed

• 1 other identifier: METC 13-4-127
• Study Type: observational
• Target: 85
• Locations: 1 country
• Sites: 1

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.

Conditions

Galactosemias; Primary Ovarian Insufficiency

Outcome Measures

Primary Outcomes (1)

• Pregnancy incidence despite POI diagnosis

  Will be assessed during semi-standardized interview

  day 1

Secondary Outcomes (4)

• Whether women have tried to conceive

  day 1

• Time to pregnancy (in case a participant has been pregnant)

  day 1

• Menstrual history

  day 1

• Hormonal replacement therapy usage

  day 1

Study Arms (1)

Females with classic galactosemia and POI

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Academic hospital

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Maastricht University Medical Center: lead

Study Sites (1)

Maastricht University Medical Center

Maastricht, Netherlands

Location

Related 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.

  PMID: 18419833 BACKGROUND

MeSH Terms

Conditions

Galactosemias; Primary Ovarian Insufficiency

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases

Study Officials

• M. Estela Rubio-Gozalbo, Dr

  Maastricht University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 13, 2014
• First Posted: March 19, 2014
• Study Start: March 1, 2014
• Primary Completion: September 1, 2016
• Study Completion: September 1, 2016
• Last Updated: September 13, 2016

Record last verified: 2016-09

Locations

NL (1)