Genetic Studies in Interstitial Cystitis (IC)
Genetic Studies in Interstitial Cystitis (IC)
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).
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 tests; 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.
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