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OpenTrials
Completed

NCT Number: NCT02091128

Pregnancy Chances in Classic Galactosemia

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

Maastricht University Medical Center

Maastricht, Netherlands

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Pregnancy incidence despite POI diagnosis

    Time frame: day 1

    Will be assessed during semi-standardized interview

Secondary outcomes

  1. Whether women have tried to conceive

    Time frame: day 1

    Will be assessed during semi-standardized interview

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

    Time frame: day 1

    Will be assessed during semi-standardized interview

  3. Menstrual history

    Time frame: day 1

    Will be assessed during semi-standardized interview

  4. Hormonal replacement therapy usage

    Time frame: day 1

    Will be assessed during semi-standardized interview

Sponsors and collaborators

Lead sponsor

Maastricht University Medical Center

Other

Registry information

Important dates

Study start
2014
Primary completion
2016
Study completion
2016
First posted
Mar 19, 2014
Registry last updated
Sep 13, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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