Identifying Genetic Causes of IC/BPS

Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00389142

Enrollment

1000

Registered

2006-10-18

Start date

2006-01-15

Completion date

2030-12-31

Last updated

2025-12-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Bladder Pain Syndrome, Interstitial Cystitis

Keywords

pelvic pain, urinary frequency, painful bladder, urinary urgency

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

1 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
observational study	through study completion, average of 10 years	Outcome is candidate or causative genes for causing IC/BPS.

Countries

United States

Contacts

Primary ContactElicia A Estrella, MS, LCGC

elicia.estrella@childrens.harvard.edu617-919-4552

Backup ContactStephanie Brewster, MS, LCGC

Stephanie.Brewster@childrens.harvard.edu

Outcome results