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Genetic Analysis of Familial Cases of Premature Ovarian Failure (FAMIOP)

This study has been completed.
ClinicalTrials.gov Identifier:
First Posted: August 9, 2010
Last Update Posted: March 26, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
The Premature ovarian failure (POF) is a rare syndrome observed in women under 40 who induced estrogen deficiency and often leads to infertility final. The etiologies of POF remain unknown in more than 85% of cases. There are 5-10 % of familial cases.The main objective of this study is to recruit, phenotype and genotype 20 families with at least two subjects with nonsyndromic POF in order to identify new loci using a single technical standard nucleotide polymorphisms (SNPs). This study will also include related population and population control.

Familial Premature Ovarian Failure

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Familial Cases of Premature Ovarian Failure

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Identification of candidate regions by genotyping within families [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA
Blood Sample

Enrollment: 110
Study Start Date: October 2010
Study Completion Date: February 2014
Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)
Subject index
Population of familial cases of POF : 20 families with at least two subjects with POF nonsyndromic
Population Index Related topics
Women, healthy women, men are potential carriers
Population control
100 Caucasian women with normal cycles until at least the age of 40 years and a proven fertility

Detailed Description:
It was decided to move towards a study of familial cases of IOP. This study will identify areas of susceptibility in new families, identify candidate genes, sequence these genes in cases familial POF and sporadic cases in order to detect potential mutations, and in the control population.

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Caucasian population

Inclusion Criteria:

Patients of familial cases of POF :

  • Female subjects between 16 and 40 years or women older than 40 years with a cessation of ovarian function before the age of 40 years with increased levels of FSH
  • Primary or secondary amenorrhea for more than three months with LH and FSH> 30mUI/ml
  • No cases of fragile X syndrome in the family or blepharophimosis syndrome
  • At least two cases in the family
  • Origin Caucasian
  • Patient signing the consent form for at least the blood sample
  • Patient with Social Security

Population Index related topics :

  • The presence of cycles until the age of 40 years with proven fertility, at least one child
  • Amenorrhea and FSH> 30mUI/ml according to the criteria of the index subject
  • Men of the family of index case

Population control :

  • Women of Caucasian origin
  • Women who had regular cycles until at least age 40 and at least one child
  • Lack of land autoimmune (no history of thyroid disease or diabetes type 1)
  • Woman signing the consent form for at least the blood sample

Exclusion Criteria:

  • Blood donation of more than 450ml in the previous three months.
  • Subject with an abnormal karyotype in favor of Turner syndrome or having a premutation of the FMR1 gene or a syndromic form
  • Subject exclusion period in another study without direct individual benefit
  • Subject refusing to sign the consent form
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01177891

Hospital Saint-Antoine, Endocrinology service
Paris, France, 75012
Sophie Christin-Maitre
Paris, France, 75012
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Sophie Christin-Maitre, MD, PhD Saint-Antoine hospital, Service of Endocrinology, ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS
  More Information

Lebedin YS, Gorchakov VD, Petrova EN, Kobylyansky AG, Raudla LA, Tatarsky AR, Bobkov EV, Adamova IY, Vasilov RG, Nasonov EL, et al. Ex vivo removal of IgE in atopic asthma by extracorporeal plasmoimmunoadsorption (EPIA): development of a clinical adsorbent. Int J Artif Organs. 1991 Aug;14(8):508-14.
Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, Lambalk CB, Hoek A, Goverde AJ, Christin-Maitre S, Hsueh AJ, Wijmenga C, Fauser BC; Dutch POF Consortium. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod. 2009 Sep;24(9):2372-8. doi: 10.1093/humrep/dep197. Epub 2009 Jun 9.
Charbit B, Christin-Maître S, Démolis JL, Soustre E, Young J, Funck-Brentano C. Effects of testosterone on ventricular repolarization in hypogonadic men. Am J Cardiol. 2009 Mar 15;103(6):887-90. doi: 10.1016/j.amjcard.2008.11.041. Epub 2009 Jan 24.
Rousseau A, Ayoubi F, Deveaux C, Charbit B, Delmau C, Christin-Maitre S, Jaillon P, Uzan G, Simon T. Impact of age and gender interaction on circulating endothelial progenitor cells in healthy subjects. Fertil Steril. 2010 Feb;93(3):843-6. doi: 10.1016/j.fertnstert.2008.10.062. Epub 2008 Dec 25.
Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH. Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat. 2009 Mar;30(3):424-30. doi: 10.1002/humu.20904.
Madelenat P, Koskas M; Groupe de réflexion sur la contraception progestative. [Update on the progestin-only contraception]. J Gynecol Obstet Biol Reprod (Paris). 2008 Nov;37(7):637-60. doi: 10.1016/j.jgyn.2008.06.013. Epub 2008 Sep 27. French.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819.
Chakhtoura Z, Bachelot A, Samara-Boustani D, Ruiz JC, Donadille B, Dulon J, Christin-Maître S, Bouvattier C, Raux-Demay MC, Bouchard P, Carel JC, Leger J, Kuttenn F, Polak M, Touraine P; Centre des Maladies Endocriniennes Rares de la Croissance and Association Surrénales. Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur J Endocrinol. 2008 Jun;158(6):879-87. doi: 10.1530/EJE-07-0887. Epub 2008 Apr 7.
Christin-Maitre S. [Physiology of ovulation and mode of action of contraceptive pills]. Rev Prat. 2008 Jan 15;58(1):17-20. Review. French.
Christin-Maitre S. The role of hormone replacement therapy in the management of premature ovarian failure. Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):60-1. Epub 2007 Nov 20. Review.
Tachdjian G, Aboura A, Portnoï MF, Pasquier M, Bourcigaux N, Simon T, Rousseau G, Finkel L, Benkhalifa M, Christin-Maitre S. Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. Hum Reprod. 2008 Jan;23(1):222-6. Epub 2007 Nov 1.
Vinci G, Christin-Maitre S, Pasquier M, Bouchard P, Fellous M, Veitia RA. FOXO3a variants in patients with premature ovarian failure. Clin Endocrinol (Oxf). 2008 Mar;68(3):495-7. Epub 2007 Sep 19.
Laissue P, Christin-Maitre S, Bouchard P, Fellous M, Veitia RA. Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure. Clin Endocrinol (Oxf). 2007 Jun;66(6):900. Epub 2007 Mar 23.
Zanotti-Fregonara P, Khoury A, Duron F, Keller I, Christin-Maître S, Kiffel T, Toubert ME, Devaux JY, Hindié E. Which thyroid cancer patients need periodic stimulation tests? Eur J Nucl Med Mol Imaging. 2007 Apr;34(4):541-6. Epub 2006 Nov 14.
Roux C, Briot K, Dumarcet N, Bourgoin M, Chapurlat R, Christin-Maitre S, Cortet B, Costagliola D, Diebolt V, Lacoin F, Letombe B, Oberlin F, Orcel P, Ravaud P, Seret P, Thomas T, Vogel JY, Barna A, Nouyrigat E, Veyries ML, Yoldjian I. [Drug treatment of postmenopausal osteoporosis. What's New in 2006]. Presse Med. 2006 Oct;35(10 Pt 2):1529-39. Review. French.
Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol. 2006 May;154(5):739-44.
De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review.
Christin-Maitre S, Duron F. Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Nov 3;292(17):2085-6; author reply 2086.
Ouzounian S, Christin-Maitre S. [What is menopause?]. Rev Prat. 2005 Feb 28;55(4):363-8. Review. French.
Simon T, Boutouyrie P, Gompel A, Christin-Maitre S, Laurent S, Thuillez C, Zannad F, Bernaud C, Jaillon P; CASHMERE investigators. Rationale, design and methods of the CASHMERE study. Fundam Clin Pharmacol. 2004 Feb;18(1):131-8.
Hulot JS, Démolis JL, Rivière R, Strabach S, Christin-Maitre S, Funck-Brentano C. Influence of endogenous oestrogens on QT interval duration. Eur Heart J. 2003 Sep;24(18):1663-7.
Christin-Maitre S, Ronci-Chaix N, Bouchard P. [Ovary genes and molecular pathology]. J Soc Biol. 2002;196(3):207-16. Review. French.

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01177891     History of Changes
Other Study ID Numbers: AOM08084
First Submitted: August 6, 2010
First Posted: August 9, 2010
Last Update Posted: March 26, 2015
Last Verified: March 2015

Additional relevant MeSH terms:
Premature Birth
Primary Ovarian Insufficiency
Menopause, Premature
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases

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