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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
  Purpose
The purpose of this study is to explore the genetic basis of reproductive disorders.

Condition
Kallmann Syndrome Hypogonadotropic Hypogonadism Hypothalamic Amenorrhea Polycystic Ovarian Syndrome Precocious Puberty

Study Type: Observational
Study Design: Observational Model: Case Control
Official Title: The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)

Resource links provided by NLM:


Further study details as provided by Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois:

Primary Outcome Measures:
  • 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


Secondary Outcome Measures:
  • 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
whole blood, serum/plasma, white blood cells, DNA

Estimated Enrollment: 2000
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)
Groups/Cohorts
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.

Detailed Description:

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
  Eligibility

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
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.
Criteria

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
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT01601171


Contacts
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

Locations
Switzerland
Centre Hospitalier Universitaire Vaudois (CHUV) Recruiting
Lausanne, Vaud, Switzerland, 1011
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   
Principal Investigator: Nelly Pitteloud, M.D.         
Sponsors and Collaborators
Centre Hospitalier Universitaire Vaudois
Swiss National Science Foundation
Investigators
Principal Investigator: Nelly Pitteloud, M.D. Centre Hositalier Universitaire Vaudois (CHUV)
  More Information

Additional Information:
Publications:
Responsible Party: Nelly Pitteloud, Professor of Medicine, Chief of Service, Centre Hospitalier Universitaire Vaudois
ClinicalTrials.gov Identifier: NCT01601171     History of Changes
Other Study ID Numbers: 345/11
First Submitted: May 15, 2012
First Posted: May 17, 2012
Last Update Posted: July 7, 2016
Last Verified: July 2016

Keywords provided by Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois:
GnRH deficiency
hypogonadism
anosmia
infertility
cleft lip
cleft palate
cryptorchidism
microphallus

Additional relevant MeSH terms:
Amenorrhea
Syndrome
Hypogonadism
Polycystic Ovary Syndrome
Puberty, Precocious
Kallmann Syndrome
Disease
Pathologic Processes
Gonadal Disorders
Endocrine System Diseases
Ovarian Cysts
Cysts
Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Menstruation Disturbances
46, XY Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn