Premature Ovarian Failure (Genetic and Physiopathologic Analysis) (GéNIOP)
Recruitment status was Recruiting
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.
Premature Ovarian Failure
|Study Design:||Time Perspective: Cross-Sectional|
|Official Title:||Premature Ovarian Failure : Genetic and Physiopathologic Analysis|
One ovarian biopsy during the protocol to evaluate ovocytes number and transcriptome analysis.
|Study Start Date:||March 2005|
|Estimated Study Completion Date:||March 2009|
|Estimated Primary Completion Date:||March 2009 (Final data collection date for primary outcome measure)|
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;
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
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.
|Contact: Philippe Touraine, MD, PhD||+33 1 42 16 02 firstname.lastname@example.org|
|Groupe Hopitalier Pitié-Salpêtrière||Recruiting|
|Paris, France, 75013|
|Contact: Philippe Touraine, MD, PhD +33 1 42 16 02 11|
|Principal Investigator:||Philippe Touraine, MD, PhD||Assistance Publique - Hôpitaux de Paris|