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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

Brief Summary:

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).

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

Detailed Description:
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.

Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Studies in Interstitial Cystitis/Painful Bladder Syndrome/Chronic Pelvic Pain Syndrome (IC/PBS/CPPS)
Actual Study Start Date : January 15, 2006
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : December 31, 2021

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Biospecimen Retention:   Samples With DNA
We will collect and store DNA (via saliva) and urine on all participants.

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
We are collecting patients throughout North America (including the United States and Canada)

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

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 identifier (NCT number): NCT00389142

Contact: Elicia A Estrella, MS, LCGC 617-919-4552
Contact: Stephanie J Brewster, MS, LCGC 617-919-4551

United States, Massachusetts
Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Elicia A Estrella, MS, LCGC    617-919-4552   
Contact: Stephanie J Brewster, MS, LCGC    617-919-4551   
Sponsors and Collaborators
Boston Children’s Hospital
Principal Investigator: Louis M Kunkel, Ph.D. Children's Hosptial, Boston

Additional Information:
Responsible Party: Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital Identifier: NCT00389142     History of Changes
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: August 1, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data from individual participants will be shared with other researcher, but participant information will be de-identified.

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:
Pelvic Pain
Cystitis, Interstitial
Pathologic Processes
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Urinary Bladder Diseases
Urologic Diseases