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NCT Number: NCT00389142

Identifying Genetic Causes of IC/BPS

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.

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Key information

Conditions

Interstitial Cystitis Bladder Pain Syndrome Cystitis Cystitis, Interstitial Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Male Urogenital Diseases Neurologic Manifestations Pain Pathological Conditions, Signs and Symptoms Pelvic Pain Signs and Symptoms Urinary Bladder Diseases Urogenital Diseases Urologic Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. observational study

    Time frame: through study completion, average of 10 years

    Outcome is candidate or causative genes for causing IC/BPS.

Study contacts

Contact information is provided by the study sponsor or research team.

Elicia A Estrella, MS, LCGC

CONTACT

[email protected]

617-919-4552

Stephanie Brewster, MS, LCGC

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Registry information

Official study title

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

Important dates

Study start
2006
Primary completion
2030
Study completion
2030
First posted
Oct 18, 2006
Registry last updated
Dec 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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