Premature Ovarian Failure (Genetic and Physiopathologic Analysis) (GéNIOP)

Premature Ovarian Failure : Genetic and Physiopathologic Analysis

Premature Ovarian Failure (POF), syndrome observed in young woman, present consequences on hormonal and leads at definitive infertility. It's a rare and complex syndrome and for this reason, we propose to initiate a collaborative team network to understand better his genetic and physiopathology.

We are going to realize a global study of this syndrome with clinical and fundamentals approaches. We wish that this project allows us to understand better the physiopathology of this rare disease. Finally, POF responsible genes identification is the base for future development of therapeutics approaches.

Study Overview

• Status: Unknown
• Conditions: Premature Ovarian Failure

Detailed Description

Premature ovarian failure (POF) is a rare but not exceptional disease concerning 0.1% of the more-than-thirty-years-old women. On the clinical aspect, patients present a primary or secondary amenorrhea depending on when the disease occurs in their lives. Infertility is most of the time definitive and the yet only available therapy is auto implantation of cryopreserved oocytes. Initiation of a substitutive hormonal treatment is also necessary to prevent the consequences of estrogenic hardship (i.e leading to osteoporosis).

POF has numerous possible origins, and can be linked to auto-immune diseases, metabolic disorders (i.e. galactosemia) or even genetic abnormalities. According to her origin, POF is characterized by (a) a depletion of primary follicles, (b) increased or accelerated follicle atresia (c) an alteration of the recruitment of dominant follicle and (d) stopped follicular maturation.

The purpose of our work is to organize a clinical and fundamental research network focussed on premature ovarian failure (POF). It will aim to collect clinical, biological, radiological and histological information on patients, and according to their phenotypes, to decide for searching possible genetic abnormalities leading to POF. And in the same time, the constitution of a broad tissue collection allows the study of ovarian transcripts, using POF as a pathologic model to describe ovaries and follicle development-involved genes.

• Study Type: Observational
• Enrollment (Anticipated): 87

Contacts and Locations

• Study Contact: Name: Philippe Touraine, MD, PhD; Phone Number: +33 1 42 16 02 11; Email: philippe.touraine@psl.aphp.fr

Study Locations

• France
  • Paris, France, 75013
    • Recruiting
    • Groupe Hopitalier Pitié-Salpêtrière
    • Contact: Philippe Touraine, MD, PhD; Phone Number: +33 1 42 16 02 11

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 39 years (Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

POF patients & controls

Description

Inclusion criteria :

Experimental group:

• 18 years <Age> 39 years
• Patient with amenorrhea since at least 3 months
• Patient with at least 1 FSH dosage > 30 mUI/L
• Patients between 40 and 45 years old with hormonal results indicating a POF declared before 39 years old will be included.
• Informed Consent Form Signature

Control group:

• 18 years <Age> 39 years
• Patient having a benign ovarian pathology justifying an ovarian surgery
• Informed Consent Form Signature

Exclusion criteria:

Not applicable

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
1; POF patients; 18 years <Age> 40 years; Hormonal sampling; FMR1 analysis; FSH Receptor gene analysis; LH Receptor gene analysis; BMP15 gene analysis; GDF9 gene analysis; Connexin 37 analysis; Ovarian biopsy; Bone Mineral Density; Pelvic Ultrasonography;
2; Control Group No POF patients; Benign ovarian pathology; 18 years <Age> 40 years; Hormonal sampling; FMR1 analyze; FSH Receptor gene analysis; LH Receptor gene analysis; BMP15 gene analysis; GDF9 gene analysis; Connexin 37 analysis; Ovarian biopsy under specific conditions; Bone Mineral Density; Pelvic Ultrasonography

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: Philippe Touraine, MD, PhD, Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start: March 1, 2005
• Primary Completion (Anticipated): March 1, 2009
• Study Completion (Anticipated): March 1, 2009

Study Registration Dates

• First Submitted: October 27, 2008
• First Submitted That Met QC Criteria: October 27, 2008
• First Posted (Estimate): October 28, 2008

Study Record Updates

• Last Update Posted (Estimate): October 28, 2008
• Last Update Submitted That Met QC Criteria: October 27, 2008
• Last Verified: October 1, 2008

More Information

Terms related to this study

• Keywords: PREMATURE OVARIAN FAILURE (POF); GENETIC ANALYSIS; PHYSIOPATHOLOGIC ANALYSIS
• Additional Relevant MeSH Terms: Endocrine System Diseases; Ovarian Diseases; Adnexal Diseases; Gonadal Disorders; Pregnancy Complications; Obstetric Labor Complications; Obstetric Labor, Premature; Premature Birth; Primary Ovarian Insufficiency; Menopause, Premature
• Other Study ID Numbers: P040801