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Pregnancy Chances in Classic Galactosemia

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. Identifier: NCT02091128
Recruitment Status : Completed
First Posted : March 19, 2014
Last Update Posted : September 13, 2016
Information provided by (Responsible Party):
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.

Condition or disease
Galactosemias Primary Ovarian Insufficiency

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Study Type : Observational
Actual Enrollment : 85 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Pregnancy Chances in Classic Galactosemia
Study Start Date : March 2014
Actual Primary Completion Date : September 2016
Actual Study Completion Date : September 2016

Females with classic galactosemia and POI

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

Secondary Outcome Measures :
  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

Information from the National Library of Medicine

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

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.

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 identifier (NCT number): NCT02091128

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

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Responsible Party: Maastricht University Medical Center Identifier: NCT02091128     History of Changes
Other Study ID Numbers: METC 13-4-127
First Posted: March 19, 2014    Key Record Dates
Last Update Posted: September 13, 2016
Last Verified: September 2016
Additional relevant MeSH terms:
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Primary Ovarian Insufficiency
Menopause, Premature
Gonadal Dysgenesis
Turner Syndrome
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