The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
|Kallmann Syndrome Hypogonadotropic Hypogonadism Hypothalamic Amenorrhea Polycystic Ovarian Syndrome Precocious Puberty|
|Study Design:||Observational Model: Case Control|
|Official Title:||The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)|
- 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
- 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)
Biospecimen Retention: Samples With DNA
|Study Start Date:||March 2012|
|Estimated Study Completion Date:||March 2022|
|Estimated Primary Completion Date:||March 2022 (Final data collection date for primary outcome measure)|
Patients with reproductive disorders will be recruited for: specimen collection (DNA/serum/plasma), completion of medical questionnairre, smell testing, and review of medical records.
Family members of patients with reproductive disorders will be recruited for: specimen collection (DNA/serum/plasma), completion of medical questionnairre, and smell testing.
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01601171
|Contact: Emmanuelle Paccou||+41 79 556 60 firstname.lastname@example.org|
|Contact: Cheng Xu, MD||+41 079 556 85 email@example.com|
|Centre Hospitalier Universitaire Vaudois (CHUV)||Recruiting|
|Lausanne, Vaud, Switzerland, 1011|
|Contact: Emmanuelle Paccou +41 79 556 60 13 firstname.lastname@example.org|
|Contact: Cheng Xu, MD +41 079 556 85 15 email@example.com|
|Principal Investigator: Nelly Pitteloud, M.D.|
|Principal Investigator:||Nelly Pitteloud, M.D.||Centre Hositalier Universitaire Vaudois (CHUV)|