Genetic Analysis of Familial Cases of Premature Ovarian Failure (FAMIOP)

March 25, 2015 updated by: Assistance Publique - Hôpitaux de Paris
The Premature ovarian failure (POF) is a rare syndrome observed in women under 40 who induced estrogen deficiency and often leads to infertility final. The etiologies of POF remain unknown in more than 85% of cases. There are 5-10 % of familial cases.The main objective of this study is to recruit, phenotype and genotype 20 families with at least two subjects with nonsyndromic POF in order to identify new loci using a single technical standard nucleotide polymorphisms (SNPs). This study will also include related population and population control.

Study Overview

Status

Completed

Conditions

Detailed Description

It was decided to move towards a study of familial cases of IOP. This study will identify areas of susceptibility in new families, identify candidate genes, sequence these genes in cases familial POF and sporadic cases in order to detect potential mutations, and in the control population.

Study Type

Observational

Enrollment (Actual)

110

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75012
        • Hospital Saint-Antoine, Endocrinology service
      • Paris, France, 75012
        • Sophie Christin-Maitre

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Caucasian population

Description

Inclusion Criteria:

Patients of familial cases of POF :

  • Female subjects between 16 and 40 years or women older than 40 years with a cessation of ovarian function before the age of 40 years with increased levels of FSH
  • Primary or secondary amenorrhea for more than three months with LH and FSH> 30mUI/ml
  • No cases of fragile X syndrome in the family or blepharophimosis syndrome
  • At least two cases in the family
  • Origin Caucasian
  • Patient signing the consent form for at least the blood sample
  • Patient with Social Security

Population Index related topics :

  • The presence of cycles until the age of 40 years with proven fertility, at least one child
  • Amenorrhea and FSH> 30mUI/ml according to the criteria of the index subject
  • Men of the family of index case

Population control :

  • Women of Caucasian origin
  • Women who had regular cycles until at least age 40 and at least one child
  • Lack of land autoimmune (no history of thyroid disease or diabetes type 1)
  • Woman signing the consent form for at least the blood sample

Exclusion Criteria:

  • Blood donation of more than 450ml in the previous three months.
  • Subject with an abnormal karyotype in favor of Turner syndrome or having a premutation of the FMR1 gene or a syndromic form
  • Subject exclusion period in another study without direct individual benefit
  • Subject refusing to sign the consent form

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Subject index
Population of familial cases of POF : 20 families with at least two subjects with POF nonsyndromic
Population Index Related topics
Women, healthy women, men are potential carriers
Population control
100 Caucasian women with normal cycles until at least the age of 40 years and a proven fertility

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Identification of candidate regions by genotyping within families
Time Frame: 1 day
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Sophie Christin-Maitre, MD, PhD, Saint-Antoine hospital, Service of Endocrinology, ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2010

Primary Completion (Actual)

February 1, 2014

Study Completion (Actual)

February 1, 2014

Study Registration Dates

First Submitted

August 6, 2010

First Submitted That Met QC Criteria

August 6, 2010

First Posted (Estimate)

August 9, 2010

Study Record Updates

Last Update Posted (Estimate)

March 26, 2015

Last Update Submitted That Met QC Criteria

March 25, 2015

Last Verified

March 1, 2015

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AOM08084

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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