Summary
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).
Conditions
Interstitial Cystitis, Bladder Pain Syndrome, Chronic Pelvic Pain Syndrome
Recruitment Status
RECRUITING
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.
Eligibility Criteria
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
Gender
ALL
Min Age
1 Week
Max Age
100 Years
Download Date
2024-07-03
Principal Investigator
N/A
Primary Contact Information
elicia.estrella@childrens.harvard.edu
Pressley Smith, MS, LCGC
Pressley.Smith@childrens.harvard.edu
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For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: