Clinical Trial: The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)

Brief Summary: The purpose of this study is to explore the genetic basis of reproductive disorders.

Detailed Summary:

The World Health Organization estimates approximately 10% of couples experience some sort of infertility problem.

In humans, puberty is the process through which we develop reproductive capacity. Disorders of puberty have provided insight into the biology of reproduction and genetic technologies have enabled us to deepen understanding in this field. The focus of this study is to better understand the genetic control of puberty and human reproduction.

Increasing understanding of the molecular basis (genes) of inherited reproductive disorders may enable investigators to:

  • improve diagnostic testing and treatments for these problems
  • develop new diagnostic tests and therapies for patients
  • enhance counseling for patients and families with reproductive disorders

Sponsor: Centre Hospitalier Universitaire Vaudois

Current Primary Outcome: rare sequence variant(s) in gene(s) [ Time Frame: 1 year (ongoing if no variants are identified) ]

The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • functionality of identified rare sequence variants (mutations) [ Time Frame: 1 year (following variant identification) ]
    The investigators will use a variety of scientific approaches to assess the functional impact of the identified rare sequence variants (mutations)
  • mode of inheritance [ Time Frame: 1 year (following variant identification) ]
    The investigators will examine family pedigrees and study family members to determine the inheritance patterns (how the disorder is transmitted in the family)
  • genotype-phenotype correlation [ Time Frame: 1 year (following variant identification) ]
    The investigators will study the phenotypic spectrum (how the disorder presents clinically) in patients with identified rare sequence variants (mutations)


Original Secondary Outcome:

  • functionality of identified rare sequence variants (mutations) [ Time Frame: 1 year (following variant identification) ]
    The investigators will use a variety of scientific approaches to assess the functional impact of the identified rare sequence variants (mutations)
  • mode of inheritance [ Time Frame: 1 year (following variant identification) ]
    The investigators will examine family pedigrees and study family members to determine the inheritance pattterns (how the disorder is transmitted in the family)
  • genotype-phenotype correlation [ Time Frame: 1 year (following variant identification) ]
    The investigators will study the phenotypic spectrum (how the disorder presents clinically) in patients with identified rare sequence variants (mutations)


Information By: Centre Hospitalier Universitaire Vaudois

Dates:
Date Received: May 15, 2012
Date Started: March 2012
Date Completion: March 2022
Last Updated: July 6, 2016
Last Verified: July 2016