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Identifying Genetic Causes of IC/BPS

Identifying Genetic Causes of IC/BPS

Recruiting
1 years and older
All
Phase N/A

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Overview

Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) 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 via blood or saliva and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS. We are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.

Description

We are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). We are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. We are attempting to determine if there is a connection between symptoms of IC/PBS and changes in specific genes or a pathway of connected genes. We will use several genetic technologies including but not limited to; linkage analysis, genome sequencing, RNAseq and candidate gene studies to try to identify the cause of IC/BPS. Once we identify the cause of IC/BPS we will be able to identify and design more effective treatments for affected individuals. We are looking for families with IC/BPS symptoms to give a DNA sample (from blood/saliva), urine samples, and answer several questionnaires. Travel to Boston NOT necessary.

Eligibility

Inclusion Criteria:

  • Diagnosis of IC/BPS
  • 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 details
    Interstitial Cystitis
    Bladder Pain Syndrome

NCT00389142

Boston Children's Hospital

9 May 2025

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