Genetic Analysis of Familial Cases of Premature Ovarian F... | NCT01177891

Studies
Genetic Analysis of Familial Cases of Premature Ovarian Failure

NCT01177891

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Completed

Last Update Posted

Mar 26, 2015Estimated

Enrollment

110Actual

Phase

Not provided

Conditions

Familial Premature Ovarian Failure

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2015

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 2010

Primary Completion Date

Feb 2014Actual

Completion Date

Feb 2014Actual

First Submitted Date

Aug 6, 2010

First Submission Date that Met QC Criteria

Aug 6, 2010

First Posted Date

Aug 9, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 25, 2015

Last Update Posted Date

Mar 26, 2015Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

110Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Interventions

Not provided

Measure	Description	Time Frame
Identification of candidate regions by genotyping within families		1 day

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

16 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Caucasian population

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Sophie Christin-Maitre, MD, PhD	Saint-Antoine hospital, Service of Endocrinology, ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hospital Saint-Antoine, Endocrinology service		Paris		75012	France
Sophie Christin-Maitre

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
1937940	Background	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.
19508998	Background