Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Not specified
- Sponsor
- Boston Children's Hospital
- Enrollment
- 1000
- Locations
- 1
- Primary Endpoint
- observational study
- Status
- Recruiting
- Last Updated
- 4 months ago
Overview
Brief Summary
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, the investigators 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. The investigators are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.
Detailed Description
The investigators are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). The investigators are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. The investigators 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. The investigators 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 the investigators identify the cause of IC/BPS they will be able to identify and design more effective treatments for affected individuals. The investigators 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.
Investigators
Catherine Brownstein
Assistant Professor of Genetics and Pediatrics, Harvard Medical School
Boston Children's Hospital
Eligibility Criteria
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
- •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
Outcomes
Primary Outcomes
observational study
Time Frame: through study completion, average of 10 years
Outcome is candidate or causative genes for causing IC/BPS.