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The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)

This study is currently recruiting participants.
Verified July 2016 by Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois
Sponsor:
ClinicalTrials.gov Identifier:
NCT01601171
First Posted: May 17, 2012
Last Update Posted: July 7, 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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Swiss National Science Foundation
Information provided by (Responsible Party):
Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois
May 15, 2012
May 17, 2012
July 7, 2016
March 2012
March 2022   (Final data collection date for primary outcome measure)
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
Same as current
Complete list of historical versions of study NCT01601171 on ClinicalTrials.gov Archive Site
  • 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)
  • 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)
Not Provided
Not Provided
 
The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
The purpose of this study is to explore the genetic basis of reproductive disorders.

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
Observational
Observational Model: Case Control
Not Provided
Retention:   Samples With DNA
Description:
whole blood, serum/plasma, white blood cells, DNA
Non-Probability Sample
Study participants will be a convenience sample of those patients with reproductive disorders (and their family members) who are interested in participating in this genetic study.
  • Kallmann Syndrome
  • Hypogonadotropic Hypogonadism
  • Hypothalamic Amenorrhea
  • Polycystic Ovarian Syndrome
  • Precocious Puberty
Not Provided
  • Patients
    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
    Family members of patients with reproductive disorders will be recruited for: specimen collection (DNA/serum/plasma), completion of medical questionnairre, and smell testing.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
2000
March 2022
March 2022   (Final data collection date for primary outcome measure)

Inclusion Criteria:(any of the following conditions)

  • hypogonadotropic hypogonadism
  • Kallmann syndrome
  • adult-onset hypogonadotropic hypogonadism
  • hypothalamic amenorrhea
  • polycystic ovarian syndrome
  • primary gonadal failure
  • precocious puberty
  • family members of the above groups

Exclusion Criteria:

  • acute illness/hospitalization
  • pituitary tumors
  • iron overload (hemochromatosis)
  • infiltrative diseases (sarcoidosis)
  • chronic alcohol abuse
  • illicit drug use
  • anabolic steroid abuse
Sexes Eligible for Study: All
Child, Adult, Senior
Yes
Contact: Emmanuelle Paccou +41 79 556 60 13 emmanuelle.paccou@chuv.ch
Contact: Cheng Xu, MD +41 079 556 85 15 cheng.xu@chuv.ch
Switzerland
 
 
NCT01601171
345/11
No
Not Provided
Not Provided
Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois
Centre Hospitalier Universitaire Vaudois
Swiss National Science Foundation
Principal Investigator: Nelly Pitteloud, M.D. Centre Hositalier Universitaire Vaudois (CHUV)
Centre Hospitalier Universitaire Vaudois
July 2016