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Pregnancy Chances in Classic Galactosemia

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02091128
First Posted: March 19, 2014
Last Update Posted: September 13, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Maastricht University Medical Center
  Purpose
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.

Condition
Galactosemias Primary Ovarian Insufficiency

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Pregnancy Chances in Classic Galactosemia

Resource links provided by NLM:


Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:
  • Pregnancy incidence despite POI diagnosis [ Time Frame: day 1 ]
    Will be assessed during semi-standardized interview


Secondary Outcome Measures:
  • Whether women have tried to conceive [ Time Frame: day 1 ]
    Will be assessed during semi-standardized interview

  • Time to pregnancy (in case a participant has been pregnant) [ Time Frame: day 1 ]
    Will be assessed during semi-standardized interview

  • Menstrual history [ Time Frame: day 1 ]
    Will be assessed during semi-standardized interview

  • Hormonal replacement therapy usage [ Time Frame: day 1 ]
    Will be assessed during semi-standardized interview


Enrollment: 85
Study Start Date: March 2014
Study Completion Date: September 2016
Primary Completion Date: September 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
Females with classic galactosemia and POI

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Academic hospital
Criteria

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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02091128


Locations
Netherlands
Maastricht University Medical Center
Maastricht, Netherlands
Sponsors and Collaborators
Maastricht University Medical Center
Investigators
Principal Investigator: M. Estela Rubio-Gozalbo, Dr Maastricht University Medical Center
  More Information

Publications:
Responsible Party: Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT02091128     History of Changes
Other Study ID Numbers: METC 13-4-127
First Submitted: March 13, 2014
First Posted: March 19, 2014
Last Update Posted: September 13, 2016
Last Verified: September 2016

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Gonadal Dysgenesis
Turner Syndrome
Galactosemias
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases