Identifying Genetic Causes of IC/BPS

Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome/Chronic Pelvic Pain Syndrome (IC/BPS/CPPS)

Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS), or chronic pelvic pain syndrome(CPPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another.

In this study, we are collecting genetic material and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS/CPPS. We are enrolling families and individuals with IC/BPS/CPPS and their family members (both family members with and without IC like symptoms).

Study Overview

• Status: Recruiting
• Conditions: Interstitial Cystitis; Bladder Pain Syndrome; Chronic Pelvic Pain Syndrome

Detailed Description

We are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS)/chronic pelvic pain syndrome (CPPS). We will enroll individuals and families with IC/BPS/CPPS to fully describe the symptoms of IC/PBS/CPPS in adults and children. We will attempt to determine if the symptoms of IC/PBS/CPPS match or indicate changes in specific genes or a pathway of connected genes. We will use several genetic technologies including but not limited to; linkage analysis, whole exome sequencing and candidate gene studies to try to identify the cause of IC/BPS/CPPS. We hope this will lead us to better more effective treatments for affected individuals. We are looking for families with IC/BPS/CPPS symptoms to give a DNA sample (from blood/saliva), urine samples, bladder tissue from clinical biopsy and answer several questionnaires. Travel to Boston NOT necessary.

• Study Type: Observational
• Enrollment (Anticipated): 750

Contacts and Locations

• Study Contact: Name: Pressley Smith, MS, LCGC; Phone Number: 617-355-4764; Email: Pressley.Smith@childrens.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital (BCH)
      • Contact: Pressley Smith, BS; Phone Number: 617-355-4764; Email: pressley.smith@childrens.harvard.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 week to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

We are collecting patients throughout North America (including the United States and Canada)

Description

Inclusion Criteria:

• Diagnosis of IC/BPS/CPPS
• Males and females of any age
• Urinary frequency - more than 1X/hour, and/or
• Dysuria, and/or
• Pelvic, suprapubic, or abdominal pain - for 3 months or longer
• Nocturia
• Normal urinary stream (by history)
• No evidence of active bacterial UTI (no pyuria & negative urinary culture for last 3 months)
• First degree relative of someone with above symptoms

Exclusion Criteria:

• Major structural/anatomical urinary tract abnormalities by ultrasound
• Underlying inborn conditions affecting the urinary tract
• Surgery/chemotherapy affected pelvic area
• GI or GU cancers
• Severe Constipation in children only

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
observational study	Outcome is candidate or causative genes for causing IC/BPS.	through study completion, average of 10 years

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Investigators: Principal Investigator: Catherine Brownstein, Ph.D., Children's Hosptial, Boston

Publications and helpful links

General Publications

• Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281. doi: 10.1016/s0090-4295(01)01138-4.

Study record dates

Study Major Dates

• Study Start (Actual): January 15, 2006
• Primary Completion (Anticipated): December 31, 2025
• Study Completion (Anticipated): December 31, 2026

Study Registration Dates

• First Submitted: October 17, 2006
• First Submitted That Met QC Criteria: October 17, 2006
• First Posted (Estimate): October 18, 2006

Study Record Updates

• Last Update Posted (Actual): April 18, 2023
• Last Update Submitted That Met QC Criteria: April 9, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Keywords: pelvic pain; urinary frequency; urinary urgency; painful bladder
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Urologic Diseases; Urinary Bladder Diseases; Pain; Neurologic Manifestations; Disease; Syndrome; Cystitis; Somatoform Disorders; Cystitis, Interstitial; Pelvic Pain
• Other Study ID Numbers: 04-11-160; 91208 (Other Grant/Funding Number: Broad Institute)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data from individual participants may be shared with other researchers. Other researchers will be approved by the internal review board at BCH and participant information will be de-identified.
• IPD Sharing Time Frame: We will store data and samples indefinitely and may share samples/data with future collaborators.
• IPD Sharing Access Criteria: Data may be shared throughout the duration of the study.
• IPD Sharing Supporting Information Type: SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No