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

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ClinicalTrials.gov Identifier: NCT01177891
Recruitment Status : Completed
First Posted : August 9, 2010
Last Update Posted : March 26, 2015
Information provided by (Responsible Party):

Study Description
Brief Summary:
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 or disease
Familial Premature Ovarian Failure

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 Design

Study Type : Observational
Actual Enrollment : 110 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Familial Cases of Premature Ovarian Failure
Study Start Date : October 2010
Primary Completion Date : February 2014
Study Completion Date : February 2014

Groups and 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

Outcome Measures

Primary Outcome Measures :
  1. Identification of candidate regions by genotyping within families [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA
Blood Sample

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Caucasian population

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01177891

Hospital Saint-Antoine, Endocrinology service
Paris, France, 75012
Sophie Christin-Maitre
Paris, France, 75012
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Sophie Christin-Maitre, MD, PhD Saint-Antoine hospital, Service of Endocrinology, ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS
More Information


Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01177891     History of Changes
Other Study ID Numbers: AOM08084
First Posted: August 9, 2010    Key Record Dates
Last Update Posted: March 26, 2015
Last Verified: March 2015

Additional relevant MeSH terms:
Premature Birth
Primary Ovarian Insufficiency
Menopause, Premature
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases