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).
Interstitial Cystitis, Bladder Pain Syndrome, Chronic Pelvic Pain Syndrome
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.
Diagnosis of IC/BPS/CPPS
Males and females of any age
Urinary frequency - more than 1X/hour, and/or
Pelvic, suprapubic, or abdominal pain - for 3 months or longer
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
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
April 18, 2023
Primary Contact Information
Elicia A Estrella, MS, LCGC
Pressley Smith, MS, LCGC
For more information on this trial, visit clinicaltrials.gov.
For more information and to contact the study team: