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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified October 2008 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00780897
First received: October 27, 2008
Last updated: NA
Last verified: October 2008
History: No changes posted
  Purpose

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.


Condition
Premature Ovarian Failure

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: Premature Ovarian Failure : Genetic and Physiopathologic Analysis

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Biospecimen Retention:   Samples With DNA

One ovarian biopsy during the protocol to evaluate ovocytes number and transcriptome analysis.


Estimated Enrollment: 87
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)
Groups/Cohorts
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

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

Ages Eligible for Study:   18 Years to 39 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

POF patients & controls

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00780897

Contacts
Contact: Philippe Touraine, MD, PhD +33 1 42 16 02 11 philippe.touraine@psl.aphp.fr

Locations
France
Groupe Hopitalier Pitié-Salpêtrière Recruiting
Paris, France, 75013
Contact: Philippe Touraine, MD, PhD    +33 1 42 16 02 11      
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Philippe Touraine, MD, PhD Assistance Publique - Hôpitaux de Paris
  More Information

No publications provided

Responsible Party: Myriem Carrier, Department Clinical Research of Developpement
ClinicalTrials.gov Identifier: NCT00780897     History of Changes
Other Study ID Numbers: P040801
Study First Received: October 27, 2008
Last Updated: October 27, 2008
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
PREMATURE OVARIAN FAILURE (POF)
GENETIC ANALYSIS
PHYSIOPATHOLOGIC ANALYSIS

Additional relevant MeSH terms:
Menopause, Premature
Primary Ovarian Insufficiency
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases

ClinicalTrials.gov processed this record on July 10, 2014