Trial record 6 of 6 for:
Open Studies | "Cleft Lip"
The Genetic Investigation of Reproductive Disorders
This study is currently recruiting participants.
Verified March 2013 by Centre Hospitalier Universitaire Vaudois
Sponsor:
Centre Hospitalier Universitaire Vaudois
Collaborator:
Swiss National Science Foundation
Information provided by (Responsible Party):
Nelly Pitteloud, Centre Hospitalier Universitaire Vaudois
ClinicalTrials.gov Identifier:
NCT01601171
First received: May 15, 2012
Last updated: March 20, 2013
Last verified: March 2013
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Purpose
The purpose of this study is to explore the genetic basis of reproductive disorders.
| Condition |
|---|
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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 |
Resource links provided by NLM:
Genetics Home Reference related topics:
familial male-limited precocious puberty
Kallmann syndrome
persistent Müllerian duct syndrome
U.S. FDA Resources
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 pattterns (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) |
| Groups/Cohorts |
|---|
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Patients
Patients with reproductive disorders will be recruited for: specimen collection (DNA/serum/plasma), completion of medical questionairre, smell testing, and review of medical records.
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Family members
Family members of patients with reproductive disorders will be recruited for: specimen collection (DNA/serum/plasma), completion of medical questionairre, and smell testing.
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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| 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.
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01601171
Contacts
| Contact: Andrew A Dwyer, RN, FNP | +41 021 314 06 00 | andrew.dwyer@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: Andrew Dwyer, RN,FNP +41 021 314 06 00 andrew.dwyer@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:
No publications provided
| 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 |
| Study First Received: | May 15, 2012 |
| Last Updated: | March 20, 2013 |
| Health Authority: | Switzerland: Ethikkommission Switzerland: Federal Office of Public Health Switzerland: Laws and standards |
Keywords provided by Centre Hospitalier Universitaire Vaudois:
|
GnRH deficiency hypogonadism anosmia infertility |
cleft lip cleft palate cryptorchidism microphallus |
Additional relevant MeSH terms:
|
Amenorrhea Hypogonadism Polycystic Ovary Syndrome Puberty, Precocious Kallmann Syndrome Menstruation Disturbances Pathologic Processes Gonadal Disorders Endocrine System Diseases Ovarian Cysts |
Cysts Neoplasms Ovarian Diseases Adnexal Diseases Genital Diseases, Female 46, XY Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Congenital Abnormalities Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on May 16, 2013