Genetic Studies in Interstitial Cystitis (IC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00389142
Recruitment Status : Recruiting
First Posted : October 18, 2006
Last Update Posted : August 1, 2017
Information provided by (Responsible Party):
Louis Kunkel, Boston Children’s Hospital

October 17, 2006
October 18, 2006
August 1, 2017
January 15, 2006
December 31, 2020   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00389142 on Archive Site
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Genetic Studies in Interstitial Cystitis (IC)
Genetic Studies in Interstitial Cystitis/Painful Bladder Syndrome/Chronic Pelvic Pain Syndrome (IC/PBS/CPPS)

Interstitial cystitis (IC), also called painful bladder syndrome (PBS), 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/PBS/CPPS. We are enrolling families and individuals with IC/PBS/CPPS and their family members (both family members with and without IC like symptoms).

To fully describe the phenotype of interstitial cystitis (IC)/painful bladder syndrome (PBS)/chronic pelvic pain syndrome (CPPS), in adults and children, and to correlate the phenotypic information to the genotypic findings utilizing linkage analysis, whole exome sequencing and candidate gene studies. Both individuals and families with IC/PBS/CPPS symptoms will be recruited to give a DNA (from saliva) and urine samples and answer 2 questionnaires. Travel to Boston NOT necessary.
Observational Model: Family-Based
Time Perspective: Prospective
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Retention:   Samples With DNA
We will collect and store DNA (via saliva) and urine on all participants.
Non-Probability Sample
We are collecting patients throughout North America (including the United States and Canada)
  • Interstitial Cystitis
  • Painful Bladder Syndrome
  • Chronic Pelvic Pain Syndrome
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Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
December 31, 2021
December 31, 2020   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • 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
Sexes Eligible for Study: All
up to 100 Years   (Child, Adult, Older Adult)
Contact: Elicia A Estrella, MS, LCGC 617-919-4552
Contact: Stephanie J Brewster, MS, LCGC 617-919-4551
United States
91208 ( Other Grant/Funding Number: Broad Institute )
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: Yes
Plan Description: Data from individual participants will be shared with other researcher, but participant information will be de-identified.
Louis Kunkel, Boston Children’s Hospital
Boston Children’s Hospital
Not Provided
Principal Investigator: Louis M Kunkel, Ph.D. Children's Hosptial, Boston
Boston Children’s Hospital
July 2017