Clinical trial NCT00780897: Premature Ovarian Failure (Genetic and Physiopathologic Analysis)
Official title: Premature Ovarian Failure : Genetic and Physiopathologic Analysis
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Premature Ovarian Failure
Keywords: PREMATURE OVARIAN FAILURE (POF)
GENETIC ANALYSIS
PHYSIOPATHOLOGIC ANALYSIS
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2008-10-28
Enrollment: 87
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 39
Standard ages: ADULT
Accepts healthy volunteers: yes
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: POF patients \& controls

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.

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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Groupe Hopitalier Pitié-Salpêtrière
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Philippe Touraine, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: