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Genetic Studies in Interstitial Cystitis (IC)

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ClinicalTrials.gov Identifier: NCT00389142
Recruitment Status : Recruiting
First Posted : October 18, 2006
Last Update Posted : April 9, 2021
Information provided by (Responsible Party):
Louis Kunkel, Boston Children's Hospital

Brief Summary:

Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS), or chronic pelvic pain syndrome(CPPS) 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 and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS/CPPS. We are enrolling families and individuals with IC/BPS/CPPS and their family members (both family members with and without IC like symptoms).

Condition or disease
Interstitial Cystitis Bladder Pain Syndrome Chronic Pelvic Pain Syndrome

Detailed Description:
We are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS)/chronic pelvic pain syndrome (CPPS). We will enroll individuals and families with IC/BPS/CPPS to fully describe the symptoms of IC/PBS/CPPS in adults and children. We will attempt to determine if the symptoms of IC/PBS/CPPS match or indicate changes in specific genes or a pathway of connected genes. We will use several genetic tests; linkage analysis, whole exome sequencing and candidate gene studies to try to identify the cause of IC/BPS/CPPS. We hope this will lead us to better more effective treatments for affected individuals. We are looking for families with IC/BPS/CPPS symptoms to give a DNA sample (from blood/saliva), urine samples, bladder tissue from clinical biopsy and answer several questionnaires. Travel to Boston NOT necessary.

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome/Chronic Pelvic Pain Syndrome (IC/BPS/CPPS)
Actual Study Start Date : January 15, 2006
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2026

Biospecimen Retention:   Samples With DNA
We will collect and store DNA (via blood/saliva) and urine on all participants. Bladder tissue if available will be collected in affected participants only.

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Week to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
We are collecting patients throughout North America (including the United States and Canada)

Inclusion Criteria:

  • Diagnosis of IC/BPS/CPPS
  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00389142

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Contact: Elicia A Estrella, MS, LCGC 617-919-4552 elicia.estrella@childrens.harvard.edu
Contact: Stephanie J Brewster, MS, LCGC 617-919-4551 stephanie.brewster@childrens.harvard.edu

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United States, Massachusetts
Boston Children's Hospital (BCH) Recruiting
Boston, Massachusetts, United States, 02115
Contact: Elicia A Estrella, MS, LCGC    617-919-4552    elicia.estrella@childrens.harvard.edu   
Contact: Stephanie J Brewster, MS, LCGC    617-919-4551    stephanie.brewster@childrens.harvard.edu   
Sponsors and Collaborators
Boston Children's Hospital
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Principal Investigator: Louis M Kunkel, Ph.D. Children's Hosptial, Boston
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Responsible Party: Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00389142    
Other Study ID Numbers: 04-11-160
91208 ( Other Grant/Funding Number: Broad Institute )
First Posted: October 18, 2006    Key Record Dates
Last Update Posted: April 9, 2021
Last Verified: April 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data from individual participants may be shared with other researchers. Other researchers will be approved by the internal review board at BCH and participant information will be de-identified.
Supporting Materials: Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: We will store data and samples indefinitely and may share samples/data with future collaborators.
Access Criteria: Data may be shared throughout the duration of the study.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Louis Kunkel, Boston Children's Hospital:
pelvic pain
urinary frequency
painful bladder
urinary urgency
Additional relevant MeSH terms:
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Cystitis, Interstitial
Pelvic Pain
Somatoform Disorders
Pathologic Processes
Mental Disorders
Neurologic Manifestations
Urinary Bladder Diseases
Urologic Diseases