Current Environment: Production

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, 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.

Conditions

Interstitial Cystitis, Bladder Pain Syndrome

Recruitment Status

RECRUITING

Detailed 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 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
* 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 Year

Max Age

N/A

Download Date

2025-04-27

Principal Investigator

N/A

Primary Contact Information

Elicia A Estrella, MS, LCGC
elicia.estrella@childrens.harvard.edu

Pressley Smith, MS, LCGC
Pressley.Smith@childrens.harvard.edu

This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.

For more information on this trial, visit clinicaltrials.gov.

Contact

For more information and to contact the study team:

Identifying Genetic Causes of IC/BPS NCT00389142 Elicia A Estrella, MS, LCGC elicia.estrella@childrens.harvard.edu Pressley Smith, MS, LCGC Pressley.Smith@childrens.harvard.edu