Trial record 8 of 8 for:    Open Studies | "Cleft Lip"

The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2015 by Centre Hospitalier Universitaire Vaudois
Swiss National Science Foundation
Information provided by (Responsible Party):
Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois Identifier:
First received: May 15, 2012
Last updated: March 10, 2015
Last verified: March 2015

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

Kallmann Syndrome
Hypogonadotropic Hypogonadism
Hypothalamic Amenorrhea
Polycystic Ovarian Syndrome
Precocious Puberty

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

Resource links provided by NLM:

Further study details as provided by Centre Hospitalier Universitaire Vaudois:

Primary Outcome Measures:
  • rare sequence variant(s) in gene(s) [ Time Frame: 1 year (ongoing if no variants are identified) ] [ Designated as safety issue: No ]
    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) ] [ Designated as safety issue: No ]
    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) ] [ Designated as safety issue: No ]
    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) ] [ Designated as safety issue: No ]
    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)
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

Genders Eligible for Study:   Both
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.


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
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 identifier: NCT01601171

Contact: Andrew A Dwyer, RN, FNP +41 021 314 06 00
Contact: Cheng Xu, MD +41 079 556 85 15

Centre Hospitalier Universitaire Vaudois (CHUV) Recruiting
Lausanne, Vaud, Switzerland, 1011
Contact: Andrew Dwyer, RN,FNP    +41 021 314 06 00   
Principal Investigator: Nelly Pitteloud, M.D.         
Sponsors and Collaborators
Centre Hospitalier Universitaire Vaudois
Swiss National Science Foundation
Principal Investigator: Nelly Pitteloud, M.D. Centre Hositalier Universitaire Vaudois (CHUV)
  More Information

Additional Information:
Responsible Party: Nelly Pitteloud, Professor of Medicine, Chief of Service, Centre Hospitalier Universitaire Vaudois Identifier: NCT01601171     History of Changes
Other Study ID Numbers: 345/11
Study First Received: May 15, 2012
Last Updated: March 10, 2015
Health Authority: Switzerland: Ethikkommission
Switzerland: Federal Office of Public Health
Switzerland: Laws and standards

Keywords provided by Centre Hospitalier Universitaire Vaudois:
GnRH deficiency
cleft lip
cleft palate

Additional relevant MeSH terms:
Kallmann Syndrome
Polycystic Ovary Syndrome
Puberty, Precocious
46, XY Disorders of Sex Development
Adnexal Diseases
Congenital Abnormalities
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Female
Gonadal Disorders
Menstruation Disturbances
Ovarian Cysts
Ovarian Diseases
Pathologic Processes
Urogenital Abnormalities processed this record on May 21, 2015