Text Size

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

This study is currently recruiting participants.
Verified June 2012 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01177891
First received: August 6, 2010
Last updated: July 25, 2012
Last verified: June 2012
History of Changes
  Purpose

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.


Condition
Familial Premature Ovarian Failure

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Familial Cases of Premature Ovarian Failure

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Identification of candidate regions by genotyping within families [ Time Frame: 1 day ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood Sample


Estimated Enrollment: 220
Study Start Date: October 2010
Estimated Study Completion Date: October 2013
Estimated Primary Completion Date: October 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

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.

  Eligibility

Ages Eligible for Study:   16 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Caucasian population

Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01177891

Contacts
Contact: Sophie Christin-Maitre, MD,PhD + 33 (0)1 49 28 24 00 sophie.christin-maitre@sat.aphp.fr
Contact: Philippe Touraine, MD, PhD + 33(0)1 42 16 02 12 philippe.touraine@psl.aphp.fr

Locations
France
Sophie Christin-Maitre Not yet recruiting
Paris, France, 75012
Contact: Sophie Christin-Maitre, MD, PhD     + 33 (0)1 49 28 24 00     sophie.christin-maitre@sat.aphp.fr    
Contact: Philippe Touraine, MD, PhD     + 33 (0)142 16 02 12     philippe.touraine@psl.aphp.fr    
Hospital Saint-Antoine, Endocrinology service Recruiting
Paris, France, 75012
Contact: Sophie Christin-Maitre, MD, PhD         sophie.christin-maitre@sat.aphp.fr    
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Sophie Christin-Maitre, MD, PhD Saint-Antoine hospital, Service of Endocrinology, ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS
  More Information

Publications:

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01177891     History of Changes
Other Study ID Numbers: AOM08084
Study First Received: August 6, 2010
Last Updated: July 25, 2012
Health Authority: France: Ministry of Health

Additional relevant MeSH terms:
Menopause, Premature
Primary Ovarian Insufficiency
Ovarian Diseases
Adnexal Diseases
 Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases

ClinicalTrials.gov processed this record on May 23, 2013