Premature Ovarian Failure (Genetic and Physiopathologic Analysis)

NCT ID: NCT00780897

Last Updated: 2008-10-28

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 87 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2005-03-31
• Study Completion Date: 2009-03-31

Brief Summary

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.

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.

Conditions

Premature Ovarian Failure

Keywords

PREMATURE OVARIAN FAILURE (POF); GENETIC ANALYSIS; PHYSIOPATHOLOGIC ANALYSIS

Study Design

• Study Time Perspective: CROSS_SECTIONAL

Study Groups

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;

No interventions assigned to this group

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

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 39 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Department Clinical Research of Developpement

Principal Investigators

Philippe Touraine, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

Groupe Hopitalier Pitié-Salpêtrière

Paris, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Philippe Touraine, MD, PhD

Role: CONTACT

Phone: +33 1 42 16 02 11

Email: philippe.touraine@psl.aphp.fr

Facility Contacts

Philippe Touraine, MD, PhD

Role: primary

Other Identifiers

P040801

Identifier Type: -

Identifier Source: org_study_id