Overactive BladderGENIENCT03057158
Genomics and Epigenomics for New Insights in fEmale OAB (GENIE) Study
An observational study of Overactive Bladder and Insulin Resistance, run by Duke University at 1 site in United States.
Trial summary
Millions of women suffer from overactive bladder, and the changes in bladder function affect their quality of life. The study team believes that it needs to be better understand why women get overactive bladder in the first place so that better treatments can eventually be offered. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Overactive Bladder, Insulin Resistance
- How many people
- 257 participants
- Where
- 1 siteUnited States
- Study dates
- 1 May 2017to 11 Mar 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: We will recruit of a total of 450 women from three groups (at least 130 women in each cohort: 1) OAB and IR; 2) IR only; and 3) OAB only) to provide limited clinical information, blood, and urine samples. A subset of these participants (20 from each group, or 60 total) will be further recruited to provide non-muscle invasive (urothelium only) bladder biopsies. Women will be recruited through advertising and from clinical sites at Duke University Health System.
Who may be able to join
- Women over the age of 18.
- Urgency incontinence (at least 3 times per week) for > 3months
- History of elevated A1C or Type II diabetes (UUI+IR and IR only groups)
- Non-pregnant
- At least 6 months since most recent childbirth
Who cannot join
- Active pregnancy, or within 6 months of childbirth
- Breastfeeding
- Proteinuria (defined as >1+ protein on urine dipstick in the absence of infection)
- Gross hematuria (in the absence of UTI)
- Type I diabetes mellitus
- Type II diabetes with chronic renal impairment (Cr >1.5)
Show all 11Show fewer
- Chronic renal disease (includes vasculitis, focal segmental glomerulosclerosis, lupus nephritis, polycystic kidney disease, nephropathy)
- Receiving chemotherapy or radiation for malignancy
- Taking one of the following drugs that influence DNA methylation: hydralazine, procainamide, methotrexate, valproic acid, tamoxifen, raloxifene, letrozole, anastrozole (Arimidex), or exemestane (Aromasin)
- Any history of urinary tract malignancy (bladder, urethra, ureter, kidney)
- Intradetrusor Botox injection within the prior 12 months
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Epigenomics in Insulin Resistance Associated Overactive Bladder.
Millions of women suffer from overactive bladder, and the changes in bladder function affect their quality of life. The study team believes that it needs to be better understand why women get overactive bladder in the first place so that better treatments can eventually be offered.
The purpose of this study is to determine why women with insulin resistance are more likely to get overactive bladder. Overactive bladder is a type of bladder control problem that can cause some women to have bladder leakage. This problem is more common in women with diabetes and pre-diabetes, but it isn't known why.
Read the detailed description
The methylation of cytosines in CpG sites can have profound effects on the ability of genes to be transcribed. To clarify and distinguish the specific methylation changes responsible for overactive bladder (OAB) in those with insulin resistance (IR), the investigator will compare three well-characterized groups of women: 1) OAB and IR; 2) IR only (no OAB); and 3) OAB only (no IR). In this proposal the investigator is only studying women since they are more likely to be affected by OAB with incontinence, the investigator wants to study pure cohorts of patients, and because this is the clinical population cared for by the primary investigator. The plan for future investigations is to apply these findings to broader groups to better understand gender and racial differences.
In Specific Aim 1, the investigator will conduct an epigenome-wide association study (EWAS) study, followed by targeted validation studies to determine whether CpG sites throughout the genome are differentially methylated in well-characterized and matched cohorts, while controlling for the effects of insulin-resistance. In Specific Aim 2, the investigator will assess for differential expression of candidate loci in relation to methylation. RNA-sequencing (RNA-seq) will be used to establish differences in the transcriptome between extreme phenotypes of OAB+IR and OAB alone. The investigator will then use quantitative polymerase chain reaction (qPCR) to validate expression differences in all cohorts, and to confirm differences in candidate loci that are confirmed in experiments from Aim 1. The investigator will proceed with bioinformatic pathway analyses to identify the function and interdependence of genes with altered expression and altered methylation profiles. In Specific Aim 3, the investigator will determine whether expression (mRNA and protein) differences in voided urine cells are also exhibited in biopsied bladder mucosa. The investigator will use targeted assays to confirm similar methylation profiles and gene expression in voided cells and bladder biopsies. The investigator will also compare protein expression of candidate loci such as EXOC6, ZFC3H1, RPS6KA2, and SPON2 proteins, if confirmed in other Aims, between cohorts. When the proposed studies have been completed, it is the expectation that the investigator will have functionally characterized the methylation changes that the investigator preliminarily identified in IR associated OAB.
- Conditions
- Overactive Bladder, Insulin Resistance
- Keywords
- OAB, Insulin resistance, diabetes, pre-diabetes
- Medical subject headings
- Urinary Bladder, Overactive, Insulin Resistance, Diabetes Mellitus, Glucose Intolerance
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Women with Urgency Incontinence (At least three times per week) greater than three months, and without insulin resistance. | |
| 2 | Women with insulin resistance (pre-diabetes or diabetes based on Hemoglobin A1C). | |
| 3 | Women with both UUI (at least three times per week for over three months) and Insulin Resistance (pre-diabetes or diabetes based on Hemoglobin A1C). | |
| 4 | Healthy Volunteers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportions of differentially methylated CpG sites between cohorts, from Illumina EPIC chip
Extract DNA from voided urine cells and compare human DNA using Illumina EPIC Methylation Chip to assess methylation of different sites across the genome
Measured: 2 years
Secondary outcomes (3)
Compare methylation between DNA extracted from voided urine cells and bladder urothelial biopsies
DNA will be extracted from voided urine cells and from urothelial biopsies in the same patients. Targeted methylation assays will be used to compare methylation sites between sample types
Measured: 2 years
Gene expression (from RNA-sequencing)
Compare mRNA recovered from bladder biopsies between women in 3 cohorts (Urgency incontinence only, insulin resistance only, urgency incontinence with insulin resistance)
Measured: 2 Years
Gene expression (from PCR)
Compare expression of candidate genes between cohorts by using polymerase chain reaction (PCR) and extracted RNA
Measured: 2 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2017
- Study start1 May 2017
- Primary completion9 Mar 2020
- Study completion11 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Overactive BladderStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 257 participants (actual)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nazema Y Siddiqui, MD, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03057158
- Sponsor's protocol ID
- Pro00079255
- Other IDs
- 302-0870
- Acronym
- GENIE
- Status last verified
- Nov 2019
- First submitted
- 13 Feb 2017
- Last updated
- 29 Sep 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epigenomics in Insulin Resistance Associated Overactive Bladder.
- ClinicalTrials.gov ID
- NCT03057158
- Acronym / sponsor ID
- GENIE / Pro00079255
- Conditions
- Overactive Bladder, Insulin Resistance
- Keywords
- OAB, Insulin resistance, diabetes, pre-diabetes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 257 participants (actual)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- 1 May 2017 (actual)
- Primary completion
- 9 Mar 2020 (actual)
- Study completion
- 11 Mar 2020 (actual)
- First posted
- 17 Feb 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Millions of women suffer from overactive bladder, and the changes in bladder function affect their quality of life. The study team believes that it needs to be better understand why women get overactive bladder in the first place so that better treatments can eventually be offered.
The purpose of this study is to determine why women with insulin resistance are more likely to get overactive bladder. Overactive bladder is a type of bladder control problem that can cause some women to have bladder leakage. This problem is more common in women with diabetes and pre-diabetes, but it isn't known why.
Detailed description
The methylation of cytosines in CpG sites can have profound effects on the ability of genes to be transcribed. To clarify and distinguish the specific methylation changes responsible for overactive bladder (OAB) in those with insulin resistance (IR), the investigator will compare three well-characterized groups of women: 1) OAB and IR; 2) IR only (no OAB); and 3) OAB only (no IR). In this proposal the investigator is only studying women since they are more likely to be affected by OAB with incontinence, the investigator wants to study pure cohorts of patients, and because this is the clinical population cared for by the primary investigator. The plan for future investigations is to apply these findings to broader groups to better understand gender and racial differences.
In Specific Aim 1, the investigator will conduct an epigenome-wide association study (EWAS) study, followed by targeted validation studies to determine whether CpG sites throughout the genome are differentially methylated in well-characterized and matched cohorts, while controlling for the effects of insulin-resistance. In Specific Aim 2, the investigator will assess for differential expression of candidate loci in relation to methylation. RNA-sequencing (RNA-seq) will be used to establish differences in the transcriptome between extreme phenotypes of OAB+IR and OAB alone. The investigator will then use quantitative polymerase chain reaction (qPCR) to validate expression differences in all cohorts, and to confirm differences in candidate loci that are confirmed in experiments from Aim 1. The investigator will proceed with bioinformatic pathway analyses to identify the function and interdependence of genes with altered expression and altered methylation profiles. In Specific Aim 3, the investigator will determine whether expression (mRNA and protein) differences in voided urine cells are also exhibited in biopsied bladder mucosa. The investigator will use targeted assays to confirm similar methylation profiles and gene expression in voided cells and bladder biopsies. The investigator will also compare protein expression of candidate loci such as EXOC6, ZFC3H1, RPS6KA2, and SPON2 proteins, if confirmed in other Aims, between cohorts. When the proposed studies have been completed, it is the expectation that the investigator will have functionally characterized the methylation changes that the investigator preliminarily identified in IR associated OAB.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Women with Urgency Incontinence (At least three times per week) greater than three months, and without insulin resistance. |
| 2 | – | –Women with insulin resistance (pre-diabetes or diabetes based on Hemoglobin A1C). |
| 3 | – | –Women with both UUI (at least three times per week for over three months) and Insulin Resistance (pre-diabetes or diabetes based on Hemoglobin A1C). |
| 4 | – | –Healthy Volunteers |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- We will recruit of a total of 450 women from three groups (at least 130 women in each cohort: 1) OAB and IR; 2) IR only; and 3) OAB only) to provide limited clinical information, blood, and urine samples. A subset of these participants (20 from each group, or 60 total) will be further recruited to provide non-muscle invasive (urothelium only) bladder biopsies. Women will be recruited through advertising and from clinical sites at Duke University Health System.
Key inclusion criteria (5 listed)
- Women over the age of 18.
- Urgency incontinence (at least 3 times per week) for > 3months
- History of elevated A1C or Type II diabetes (UUI+IR and IR only groups)
- Non-pregnant
- At least 6 months since most recent childbirth
Key exclusion criteria (11 listed)
- Active pregnancy, or within 6 months of childbirth
- Breastfeeding
- Proteinuria (defined as >1+ protein on urine dipstick in the absence of infection)
- Gross hematuria (in the absence of UTI)
- Type I diabetes mellitus
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Proportions of differentially methylated CpG sites between cohorts, from Illumina EPIC chip
Time frame: 2 years
Extract DNA from voided urine cells and compare human DNA using Illumina EPIC Methylation Chip to assess methylation of different sites across the genome
3 secondary outcomes
Compare methylation between DNA extracted from voided urine cells and bladder urothelial biopsies
Time frame: 2 years
Gene expression (from RNA-sequencing)
Time frame: 2 Years
Gene expression (from PCR)
Time frame: 2 Years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2020.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Nazema Y Siddiqui, MD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Overactive Bladder and Insulin Resistance, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Sep 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportions of differentially methylated CpG sites between cohorts, from Illumina EPIC chip (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2020.