The role of collagen genetic discrepancies in development of pelvic organ prolapse in women

ISRCTN ISRCTN15002246
DOI https://doi.org/10.1186/ISRCTN15002246
Secondary identifying numbers 05/2016
Submission date
13/01/2018
Registration date
22/01/2018
Last edited
10/10/2022
Recruitment status
No longer recruiting
Overall study status
Completed
Condition category
Urological and Genital Diseases
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data

Plain English summary of protocol

Background and study aims
Pelvic organ prolapse can be both hereditary (born with it) and acquired. It occurs when the pelvic organ like the bladder drops from its normal place and pushes against the vagina walls. During last decade, the role of genetics in POP becomes profoundly obvious. Scandinavian twin studies have shown that there is a high consistency for pelvic disorders and that genetic factors are reaching up to 40%. Collagen is playing a major role in pelvic floor supportive structures. Connective tissues contain of type I collagen (COL1A1), giving strength to the ligaments due to the length and thickness of the fibers, and type III collagen (COL3A1), an increased amount of which is associated with a decrease in the mechanical strength of the connective tissue. The role of single nucleotide polymorphism (SNP) of the COL1A1 or COL3A1 or COL18A1 genes remain controversial. Some studies and meta-analysis found a strict correlation between these genetic defects and POP; other investigators did not confirm it. The aim of the study is to investigate the role of these SNPs in women suffering pelvic floor prolapse and women without pelvic disorders.

Who can participate?
Women aged 18 and older who have pelvic organ prolapse and women without it.

What does the study involve?
Participants are giving a saliva sample in order to perform a genetic test. The medical history is collected and filed; pelvic floor physical exam will be done. The saliva samples are analyzed for single nucleotide polymorphisms COL3A1 (rs1800255, rs1801184, rs111929073); in COL1A1 (rs1800012); in COL18A1 (rs2236479).

What are the possible benefits and risks of participating?
The benefit for participants would be to have information about genetic collagen related risk factors for connective tissue diseases. There are no anticipated disadvantages or risks to participants in taking part in this study. Whichever group they are allocated to, the tests and assessments are performed by competent and trained clinicians.

Where is the study run from?
This study is being run by the Moscow State University of Medicine and Dentistry and takes place in Urology Department in the Moscow City Hospital (Russia).

When is the study starting and how long is it expected to run for?
September 2016 to September 2018

Who is funding the study?
Ministry of Health of Russian Federation (Russia)

Who is the main contact?
Dr George Kasyan

Contact information

Prof George Kasyan
Scientific

Vucheticha 21
Moscow
126209
Saint Helena, Ascension and Tristan da Cunha

ORCiD logoORCID ID 0000-0001-7919-2217

Study information

Study designProspective case-control study that included women with pelvic organ prolapse and the group of control
Primary study designObservational
Secondary study designCase-control study
Study setting(s)Hospital
Study typeDiagnostic
Participant information sheet Not available in web format, please use the contact details below to request a patient information sheet
Scientific titleSingle nucleotide polymorphisms in type 1 and 3 collagens in women suffering pelvic organ prolapse
Study acronymSNPs in COL1 and COL3 for Pelvic organ prolapse
Study objectivesThe single nucleotide polymorphisms in collagen type 1 alpha 1 or type 3 alpha 1 genes may play a role in development of pelvic organ prolapse in women.
Ethics approval(s)Ethics Board of Moscow State University of Medicine and Dentistry, 01/06/2016, ref: # 05-17
Health condition(s) or problem(s) studiedPelvic organ prolapse has a mixed etiology – hereditary and acquired. Collagen is playing a major role in pelvic floor supportive structures. The role of single nucleotide polymorphism of the collagen genes remain controversial. This inconsistency has resulted in the current study in which several polymorphisms in collagen in saliva samples of women will be investigated.
InterventionThis is cross sectional case-control study evaluating the prevalence of single nucleotide polymorphism (SNP) in collagen type 3 alpha 1 chain (COL3A1), collagen type 1 alpha 1 chain (COL1A1) and collagen type 18 alpha 1 chain (COL18A1) genes in patients with pelvic organ prolapse or in control group.

Patient information are extracted from the database of the University Urology Clinic. Patients previously operated for pelvic organ prolapse are contacted via nurse phone call. They are informed about the study and invited for a visit. The control group includes parous women without pelvic organ prolapse.

During the screening visit, participant information and informed consent are provided to women. During the first visit, participants sign informed consent and provide a saliva sample for genetic investigations. The results of the tests are sent to the participants via emails.
Intervention typeBiological/Vaccine
Pharmaceutical study type(s)
Phase
Drug / device / biological / vaccine name(s)
Primary outcome measureSingle nucleotide polymorphisms in COL3A1 is investigated using Sanger gene sequencing method.
Secondary outcome measures1. Single nucleotide polymorphisms in COL1A1 gene is measured using Sanger gene sequencing method
2. Single nucleotide polymorphisms in COL 18A gene is measured using Sanger gene sequencing method
Overall study start date15/09/2016
Completion date01/09/2018

Eligibility

Participant type(s)Patient
Age groupAdult
Lower age limit18 Years
SexFemale
Target number of participants250
Key inclusion criteria1. Adult women suffering from pelvic organ prolapse and healthy women as controls
2. Aged 18 and older
Key exclusion criteriaHereditary diseases with a known increased risk of POP, such as Marfan or Ehlers-Danlos syndrome and previous surgeries for POP for the control group
Date of first enrolment01/01/2017
Date of final enrolment01/06/2018

Locations

Countries of recruitment

  • Russian Federation

Study participating centre

Urology Department of Moscow State University of Medicine and Dentistry
Vucheticha 21
Moscow
127206
Russian Federation

Sponsor information

Ministry of Health of Russian Federation
Government

Rakhmanov Pereulok 3
Moscow
127994
Russian Federation

Phone +7 4956272400
Email info@rosminzdrav.ru
Website rosminzdrav.ru
ROR logo "ROR" https://ror.org/01p8ehb87

Funders

Funder type

Research organisation

Russian Academy of Medical Sciences
Private sector organisation / Universities (academic only)
Alternative name(s)
RAMS
Location
Russian Federation

Results and Publications

Intention to publish date01/06/2019
Individual participant data (IPD) Intention to shareYes
IPD sharing plan summaryAvailable on request
Publication and dissemination planPlanned publication in a high-impact peer reviewed journal. All additional documents are available in Russian in the study file. Not available in web format, please use the contact details below to request a patient information sheet.
IPD sharing planThe datasets generated during and/or analysed during the current study are/will be available upon request from Investigators: George Kasyan, Dmitry Vishnevsky at study contact address: urodep@msmsu.ru, tel/fax +7 499 760 75 89

Study outputs

Output type Details Date created Date added Peer reviewed? Patient-facing?
Results article results 09/08/2018 06/09/2019 Yes No
Results article 01/01/2021 10/10/2022 Yes No

Editorial Notes

10/10/2022: Publication reference added.
06/09/2019: Publication references added.