Pregnancy Chances in Classic Galactosemia

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by Maastricht University Medical Center
Sponsor:
Information provided by (Responsible Party):
Maastricht University Medical Center
ClinicalTrials.gov Identifier:
NCT02091128
First received: March 13, 2014
Last updated: March 17, 2014
Last verified: March 2014
  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 ] [ Designated as safety issue: No ]
    Will be assessed during semi-standardized interview


Secondary Outcome Measures:
  • Whether women have tried to conceive [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    Will be assessed during semi-standardized interview

  • Time to pregnancy (in case a participant has been pregnant) [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    Will be assessed during semi-standardized interview

  • Menstrual history [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    Will be assessed during semi-standardized interview

  • Hormonal replacement therapy usage [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    Will be assessed during semi-standardized interview


Estimated Enrollment: 150
Study Start Date: March 2014
Estimated Study Completion Date: March 2016
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Females with classic galactosemia and POI

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02091128

Contacts
Contact: Britt van Erven, Student britt.van.erven@mumc.nl

Locations
Netherlands
Maastricht University Medical Center Recruiting
Maastricht, Netherlands
Contact: Medisch Ethische Commissie azM/UM       secretariaat.mec@mumc.nl   
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
Study First Received: March 13, 2014
Last Updated: March 17, 2014
Health Authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Gonadal Dysgenesis
Turner Syndrome
Galactosemias
Menopause, Premature
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
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

ClinicalTrials.gov processed this record on August 19, 2014