None listed
Conditions
Brief summary
The purpose of the study is to discover if certain types of variation in a person’s genes can influence whether or not they experience a pelvic organ prolapse (POP). We want to understand if your genes can change the composition of the supportive pelvic floor tissue and make it more likely that you will experience a prolapse. Our hypothesis is that women who experience a pelvic organ prolapse before the menopause are more likely to have changes in the genes that contribute to the make-up of the pelvic floor connective tissue. We hypothesise that by specifically looking at the genes that are critical to pelvic floor connective tissue, we will more easily find this rare, genetic variation. The study involves laboratory testing on tissue(s) removed from the body including blood, urine and a tissue biopsy in some cases. The study does not affect care or healing in any way. The new knowledge gained will help scientists and doctors better understand if women are predisposed to pelvic organ prolapse based on their genetics. This could allow future research to discover new treatments or to target particular women for preventative care. This study is funded by the University of Otago. The study is approved by a research ethics committee to ensure the safety of those in the study. The results of the study may be published or presented in scientific journals or at conferences. No information will be disclosed that could cause you to be identified. Portions of the information collected may be used in a thesis used for the purposes of gaining a research qualification by a student researcher. Individuals will not be able to be identified from any of this information
Interventions
The goal of this study is to look for genetic variation in a cohort of New Zealand women with a severe pelvic organ prolapse phenotype. This is defined as pre-menopausal women (<55) with a prolapse score of 3 or 4 as defined by the POP-Q scale. This defined group of women may have a genetic cause underlying their prolapse. In this study, a gene-collapsing burden analysis of genetic variation in a defined set of genes will be performed in the experimental group as compared to the control group (p
The goal of this study is to look for genetic variation in a cohort of New Zealand women with a severe pelvic organ prolapse phenotype. This is defined as pre-menopausal women (<55) with a prolapse score of 3 or 4 as defined by the POP-Q scale. This defined group of women may have a genetic cause underlying their prolapse. In this study, a gene-collapsing burden analysis of genetic variation in a defined set of genes will be performed in the experimental group as compared to the control group (pre-menopausal women, para greater or equal to 1, POP-Q score 0 or 1). Recruitment will be ongoing over a 10 year period. This length of time is necessary to recruit an appropriately sized cohort. There are two parts to this study: 1. Surgical study: Women undergoing surgical repair of a pelvic organ prolapse will have a blood, urine and tissue sample collected alongside their surgery. They will have their genome sequenced, and the biochemistry and proteins of the urine and tissue will be analysed. The results of this analysis will be compared to the results of a control group of women who are undergoing surgical repair of an abdominal hysterectomy. Participants recruited into this arm of the study will give one blood sample, one urine sample and one tissue sample (5 mm punch biopsy of anterior vaginal) at the time of their surgery. No follow up with participants is required post-surgery but their data will be returned to them at their request. 2. Genome-only study: Women with prolapse will be identified in the primary care setting and have only a blood sample taken and a genome sequencing performed. The results of this analysis will be compared to results from a second control group of women without prolapse identified in the primary care setting. In this arm of the study, participants will provide one blood sample only. No follow up with participants is required but their data will be returned to them at their request.
Sponsors
University of Otago
Eligibility
Sex/Gender
All
Age
18 Years to 55 Years
Healthy volunteers
Yes
Inclusion criteria
All participants (surgical and genome-only study): 1. Aged between 18 and 55 2. Women (including all people with female reproductive anatomy [but no history of male hormone therapy]) 3. Able to give informed consent for participation Prolapse group for both studies: 1. A previously or currently diagnosed POP-Q grade 3 or 4 pelvic organ prolapse Surgical prolapse group: 1. Undergoing planned pelvic prolapse repair surgery Surgical control group: 1. Undergoing a planned abdominal hysterectomy. No further specific, inclusion criteria for the genome-only study
Exclusion criteria
All participants: 1. Diagnosed primary genetic disorder affecting connective tissue or a secondary disorder that affects connective tissue such as autoimmune diseases Control group for both surgical and genome-only studies: 1. First degree relative with a previously or currently diagnosed (prior to age 55) POP-Q grade 3 or 4 pelvic organ prolapse 2. Para 0 Surgical group (both prolapse and controls) 1. Taking anti-coagulant medications 2. Any medical condition that, in the assessment of the operating surgeon, contraindicates taking a tissue biopsy
Outcome results
None listed