The Occurrence of Single Nucleotide Polymorphism Among Women Who Experienced Obstetric Anal Sphincter Injury

NCT04047433 | Completed

• 1 other identifier: 0091-18-EMC
• Study Type: interventional
• Target: 93
• Locations: 1 country
• Sites: 1

Brief Summary

Single-nucleotide polymorphisms (SNP's) in connective tissue components are associated with increased risk of pelvic organ prolapse (POP). The investigators expect to find a difference in SNP's frequency between women who had Obstetric anal sphincter injuries (OASIS) and in the healthy population. The fact that pelvic organ prolapse (POP) and OASIS occurs in the same anatomic region and the well-known association between few SNP's and the risk for POP, suggests for a common pathophysiology.

Conditions

Delivery, Obstetric

Outcome Measures

Primary Outcomes (1)

• difference in the frequency of of Single-nucleotide polymorphisms

  difference in the relative frequency of Single-nucleotide polymorphisms between women with external anal sphincter injury that occurs during vaginal delivery and those without it.

  through study completion, an average of 2 years

Secondary Outcomes (1)

• genetic mutation

  through study completion, an average of 2 years

Study Arms (2)

women with external anal sphincter injury

EXPERIMENTAL

The study cohort will be composed of women undergoing vaginal delivery and diagnosed with external anal sphincter injury after a vaginal delivery.

Genetic: screening for single nucleotide polymorphism; Genetic: whole exome sequencing

women without external anal sphincter injury

EXPERIMENTAL

The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration

Genetic: screening for single nucleotide polymorphism

Interventions

screening for single nucleotide polymorphism GENETIC

samples from both arms will be tested for a set of single nucleotide polymorphism

women with external anal sphincter injury; women without external anal sphincter injury

whole exome sequencing GENETIC

samples from arm #1 (women with external anal sphincter) will be tested for identifying specific genetic mutation

women with external anal sphincter injury

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Women with severe external anal sphincter injury during first vaginal delivery
• Healthy women undergoing vaginal delivery without any clinically apparent perineal laceration

You may not qualify if:

• Women with known metabolic or connective-tissue disorder (e.g., Ehlers-Danlos syndrome).
• Women with known neurologic disorder
• Women undergoing episiotomy cut or assisted delivery (e.g., vacuum or forceps delivery)

Sponsors & Collaborators

• HaEmek Medical Center, Israel: lead

Study Sites (1)

Haemek Medical Center

Afula, Israel, Israel

Location

MeSH Terms

Interventions

Mass Screening; Polymorphism, Single Nucleotide; Exome Sequencing

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice; Polymorphism, Genetic; Genetic Variation; Genetic Phenomena; Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques

Study Officials

• Hedi Raischer, MD

  haemek medical center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Model Details: two arms - 1. with external anal sphincter injury 2. without injury both will go through genetic screening test the arm with the external anal sphincter injury will also be tested for advanced genetic testing

Study Record Dates

• First Submitted: August 2, 2019
• First Posted: August 6, 2019
• Study Start: September 4, 2020
• Primary Completion: October 5, 2023
• Study Completion: October 5, 2023
• Last Updated: March 26, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

IL (1)