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NCT Number: NCT01601171

Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate

The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.

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Key information

Conditions

Kallmann Syndrome Adnexal Diseases Anosmia Cleft Lip Cleft Lip and Palate Cleft Palate Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Cryptorchidism Cysts Disorder of Sex Development, 46,XY Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Genital Diseases, Male Gonadal Disorders Hypogonadism Hypogonadotropic Hypogonadism Hypothalamic Amenorrhea Infertility Jaw Abnormalities Jaw Diseases Lip Diseases Male Urogenital Diseases Maxillofacial Abnormalities Mouth Abnormalities Mouth Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Neoplasms Nervous System Diseases Neurologic Manifestations Olfaction Disorders Ovarian Cysts Ovarian Diseases Pathological Conditions, Signs and Symptoms Penis agenesis Polycystic Ovarian Syndrome Polycystic Ovary Syndrome Precocious Puberty Puberty, Precocious Sensation Disorders Signs and Symptoms Stomatognathic Diseases Stomatognathic System Abnormalities Testicular Diseases Urogenital Abnormalities Urogenital Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

The timing of puberty varies greatly in the general population and is influenced by both genetic and environmental factors. In extreme cases of pubertal delay, puberty progresses only partially or not at all and results in the clinical picture of congenital hypogonadotropic hypogonadism (CHH), either accompanied by anosmia in 50% of cases (Kallmann syndrome [KS]) or by normal sense of smell (nCHH), with a male: female ratio of 4:1.

CHH is due to GnRH deficiency (incidence 1: 4,000-10,000) and result in the failure of sexual maturation and infertility. It is genetically heterogeneous, with multiple patterns of inheritance and several associated loci. In the clinical spectrum of GnRH deficiency, CHH may also be associated with a cleft lip/palate (CL/P) in 5 to 7% of cases. However, this prevalence increases up to 40% in CHH patients carrying a mutation in a CL/P gene, suggesting a genetic overlap between CHH and CL/P.

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 as well as its link with CL/P.

Increasing understanding of the molecular basis (genes) of inherited reproductive disorders and CL/P 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
  • enhance counseling for patients and families with cleft lip/palate

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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
  • cleft lip/palate
  • 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

Treatment and study plan

Primary outcomes

  1. 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 outcomes

  1. 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)

  2. 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)

  3. 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)

Study contacts

Contact information is provided by the study sponsor or research team.

Emmanuelle Paccou

CONTACT

[email protected]

+41 79 556 60 13

Michela Adamo, MD

CONTACT

[email protected]

+41 079 556 85 14

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Vaudois

Other

Collaborators

  • Swiss National Science Foundation

Registry information

Official study title

The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate

Important dates

Study start
2012
Primary completion
2025
Study completion
2030
First posted
May 17, 2012
Registry last updated
Jun 21, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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