JOURNAL ONKOLOGIE – STUDIE

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

Studien-Informationen Einschlusskriterien Studien-Rationale Studien-Arme

Rekrutierend

Studienbeginn:
März 2012

Letztes Update:
21.06.2022

Wirkstoff:
-

Indikation (Clinical Trials):
Syndrome, Hypogonadism, Polycystic Ovary Syndrome, Amenorrhea, Puberty, Precocious, Kallmann Syndrome, Cleft Palate, Cleft Lip

Geschlecht:
Alle

Altersgruppe:
Alle

Phase:
-

Sponsor:
Centre Hospitalier Universitaire Vaudois

Collaborator:
Swiss National Science Foundation

Studienleiter

Nelly Pitteloud, M.D.
Principal Investigator
Centre Hositalier Universitaire Vaudois (CHUV)

Kontakt

Emmanuelle Paccou
Kontakt:
Phone: +41 79 556 60 13
E-Mail: emmanuelle.paccou@chuv.ch» Kontaktdaten anzeigen

Michela Adamo, MD
Kontakt:
Phone: +41 079 556 85 14
E-Mail: michela.adamo@chuv.ch» Kontaktdaten anzeigen

Studienlocations
(1 von 1)

Centre Hospitalier Universitaire Vaudois (CHUV)
1011 Lausanne
SwitzerlandRekrutierend» Google-Maps
Ansprechpartner:
Emmanuelle Paccou
Phone: +41 79 556 60 13
E-Mail: emmanuelle.paccou@chuv.ch

Michela Adamo, MD
Phone: +41 079 556 85 14
E-Mail: michela.adamo@chuv.ch» Ansprechpartner anzeigen

Studien-Informationen

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.

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

Ein-/Ausschlusskriterien

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

Studien-Rationale

Primary outcome:

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 outcome:

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)

Studien-Arme

Patients
Patients with reproductive disorders with or without cleft lip/palate will be recruited for: completion of medical questionnaire and review of medical records family tree (including questions on reproductive disorders and cleft lip/palate) specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy smell testing hearing test bone density brain MRI kidney, testicular/ovarian ultrasound
Family members
Family members of Patients will be recruited for: completion of medical questionnaire specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy smell testing

Quelle: ClinicalTrials.gov

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