Identifying Genetic Causes of IC/BPS

Study Overview
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Brief Summary
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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).

Detailed Description
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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.

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

Conditions
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Interstitial Cystitis, Bladder Pain Syndrome, Chronic Pelvic Pain Syndrome

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 1 Week
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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urinary frequency, pelvic pain, painful bladder, urinary urgency