Linkage Analysis in Interstitial Cystitis (IC)

This study has been completed.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by:
Beth Israel Deaconess Medical Center Identifier:
First received: May 7, 2008
Last updated: February 5, 2014
Last verified: February 2014
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical syndrome presenting as severe pelvic pain with extreme urinary urgency and frequency in the absence of any known cause. The etiologic mechanisms underlying UCPPS are unknown, but recurrence, risks to siblings of affected individuals, concordance among monozygotic twins, and our own preliminary studies indicate a strong genetic contribution to the cause of UCPPS. The overall goal of this proposal is use novel approaches to understand the basis of UCPPS, to identify candidate genes containing mutations that result in UCPPS and determine how the different encoded proteins of these genes interact with one another in a common biological pathway. Ultimately, understanding how mutations in at least five different genes yield the symptoms of UCPPS should lead to improved diagnosis and possible therapies.

Cystitis, Interstitial
Urinary Bladder, Overactive
Chronic Pelvic Pain Syndrome
Painful Bladder Syndrome

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Studies of Urologic Chronic Pelvic Pain Syndrome

Resource links provided by NLM:

Further study details as provided by Beth Israel Deaconess Medical Center:

Biospecimen Retention:   Samples With DNA
Saliva and urine

Estimated Enrollment: 300
Study Start Date: January 2006
Study Completion Date: June 2011
Primary Completion Date: June 2011 (Final data collection date for primary outcome measure)
Men with chronic prostatitis/chronic pelvic pain syndrome
Women with painful bladder syndrome/interstitial cystitis
Children with overactive bladder
Bulgarian cohort with chronic prostatitis/chronic pelvic pain syndrome, painful bladder syndrome/interstitial cystitis and children with overactive bladder
Asymptomatic healthy controls


Ages Eligible for Study:   3 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Self-referred patients and subjects from a Bulgarian high-prevalence CPPS population

Inclusion Criteria:

  • Have symptoms for at least 3 months within the preceding 6 months:
  • Pain in the pelvic area
  • Urinary frequency and/or
  • Urinary urgency and/or
  • Sexual dysfunction (erectile dysfunction)
  • Have CP/CPPS, IC, PBS, or BFS
  • Be willing to provide a saliva and urine sample
  • Agree to complete several brief questionnaires
  • Family of someone with CP/CPPS, PBS, IC or BFS
  • Live in the USA or Canada

Exclusion Criteria:

  • Major structural/anatomical urinary tract abnormalities
  • Underlying inborn or congenital conditions
  Contacts and Locations
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Please refer to this study by its identifier: NCT00675298

United States, Massachusetts
Jordan D Dimitrakoff
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Beth Israel Deaconess Medical Center
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Study Chair: Jordan D Dimitrakoff, MD, PhD Beth Israel Deaconess Medical Center
  More Information

Responsible Party: Jordan Dimitrakoff, MD, PhD, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA Identifier: NCT00675298     History of Changes
Other Study ID Numbers: R01 DK081647, R01DK081647
Study First Received: May 7, 2008
Last Updated: February 5, 2014
Health Authority: United States: Federal Government

Keywords provided by Beth Israel Deaconess Medical Center:
Cystitis, Interstitial
Urinary Bladder, Overactive
Chronic pelvic pain syndrome
Painful bladder syndrome

Additional relevant MeSH terms:
Cystitis, Interstitial
Pelvic Pain
Somatoform Disorders
Urinary Bladder, Overactive
Genital Diseases, Male
Lower Urinary Tract Symptoms
Mental Disorders
Pathologic Processes
Prostatic Diseases
Signs and Symptoms
Urinary Bladder Diseases
Urologic Diseases
Urological Manifestations processed this record on November 25, 2015