NCT02388854

Brief Summary

Endometriosis, defined as the presence of endometrial tissue outside the uterine cavity, affects 6-10% of the general population of women in childbearing age. The pathogenesis of the disease is unknown. The purpose of this study is to evaluate the influence of certain polymorphisms of genes WNT4, VEZT, FSHB, known to be involved in molecular mechanisms associated with phenomena of proliferation and development of endometriotic lesions, and SIRT1, that based on metabolomics studies, could hypothetically have a role in the pathogenesis of the disease. The study focus on the Sardinian population, known to have unique genetic characteristics due to geographical isolation.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2019

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 9, 2015

Completed
8 days until next milestone

First Posted

Study publicly available on registry

March 17, 2015

Completed
4.5 years until next milestone

Study Start

First participant enrolled

September 1, 2019

Completed
1.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2021

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2021

Completed
Last Updated

February 15, 2021

Status Verified

February 1, 2021

Enrollment Period

1.8 years

First QC Date

March 9, 2015

Last Update Submit

February 12, 2021

Conditions

Polymorphism (Genetics)Endometriosis

Outcome Measures

Primary Outcomes (1)

  • Frequency of Single Nucleotide Polymorphisms of WNT4, VEZT, FSHB and SIRT1 in Sardinian women with and without endometriosis diagnosis

    baseline

Study Arms (2)

Endometriosis

Sardinian Women with diagnosis of endometriosis

Genetic: SNPs analysis with Sanger sequencing

Controls

Healthy blood Sardinian donors

Genetic: SNPs analysis with Sanger sequencing

Interventions

SNPs analysis with Sanger sequencingGENETIC

Research of frequency of SNPs (WNT4, VEZT, FSHB and SIRT1 genes) in Sardinian women affected by endometriosis and controls

ControlsEndometriosis

Eligibility Criteria

Age18 Years+
Sexfemale
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Sardinian women with or without diagnosis of endometriosis

You may qualify if:

  • endometriosis diagnosis (clinic, ultrasound or histological)
  • women of Sardinian origin
  • no signs of endometriosis
  • women of Sardinian origin

You may not qualify if:

  • women of non-Sardinian origin
  • patients unable to provide written informed consent or to follow the procedures provided by the protocol

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Cagliari,Obstetrics and Gynecological Department,

Monserrato, Cagliari, 09042, Italy

RECRUITING

Related Publications (2)

  • Matalliotakis M, Zervou MI, Matalliotaki C, Rahmioglu N, Koumantakis G, Kalogiannidis I, Prapas I, Zondervan K, Spandidos DA, Matalliotakis I, Goulielmos GN. The role of gene polymorphisms in endometriosis. Mol Med Rep. 2017 Nov;16(5):5881-5886. doi: 10.3892/mmr.2017.7398. Epub 2017 Aug 29.

    PMID: 28901453BACKGROUND

  • Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, O D, Peterse D, Rexrode KM, Ridker PM, Schork AJ, MacGregor S, Martin NG, Becker CM, Adachi S, Yoshihara K, Enomoto T, Takahashi A, Kamatani Y, Matsuda K, Kubo M, Thorleifsson G, Geirsson RT, Thorsteinsdottir U, Wallace LM; iPSYCH-SSI-Broad Group; Yang J, Velez Edwards DR, Nyegaard M, Low SK, Zondervan KT, Missmer SA, D'Hooghe T, Montgomery GW, Chasman DI, Stefansson K, Tung JY, Nyholt DR. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nat Commun. 2017 May 24;8:15539. doi: 10.1038/ncomms15539.

    PMID: 28537267BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

EDTA blood samples

MeSH Terms

Conditions

Endometriosis

Condition Hierarchy (Ancestors)

Genital Diseases, FemaleFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesGenital Diseases

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Influence of WNT4 VEZT FSHB and SIRT1 genetic polymorphiisms in the pathogenesis of endometriosis: a case control study of the Sardinian population

Study Record Dates

First Submitted

March 9, 2015

First Posted

March 17, 2015

Study Start

September 1, 2019

Primary Completion

June 1, 2021

Study Completion

December 1, 2021

Last Updated

February 15, 2021

Record last verified: 2021-02

Locations

IT(1)