Linkage Analysis in Interstitial Cystitis (IC)

Genetic Studies of Urologic Chronic Pelvic Pain Syndrome

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.

Study Overview

• Status: Completed
• Conditions: Urinary Bladder, Overactive; Cystitis, Interstitial; Painful Bladder Syndrome; Prostatitis; Chronic Pelvic Pain Syndrome

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Jordan D Dimitrakoff

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Self-referred patients and subjects from a Bulgarian high-prevalence CPPS population

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort
1; Men with chronic prostatitis/chronic pelvic pain syndrome
2; Women with painful bladder syndrome/interstitial cystitis
3; Children with overactive bladder
4; Bulgarian cohort with chronic prostatitis/chronic pelvic pain syndrome, painful bladder syndrome/interstitial cystitis and children with overactive bladder
5; Asymptomatic healthy controls

Collaborators and Investigators

• Sponsor: Beth Israel Deaconess Medical Center
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Investigators: Study Chair: Jordan D Dimitrakoff, MD, PhD, Beth Israel Deaconess Medical Center

Publications and helpful links

General Publications

• Dimitrakov J, Kroenke K, Steers WD, Berde C, Zurakowski D, Freeman MR, Jackson JL. Pharmacologic management of painful bladder syndrome/interstitial cystitis: a systematic review. Arch Intern Med. 2007 Oct 8;167(18):1922-9. doi: 10.1001/archinte.167.18.1922. Erratum In: Arch Intern Med. 2007 Dec 10-22;167(22):2452.
• Dimitrakov J, Joffe HV, Soldin SJ, Bolus R, Buffington CA, Nickel JC. Adrenocortical hormone abnormalities in men with chronic prostatitis/chronic pelvic pain syndrome. Urology. 2008 Feb;71(2):261-6. doi: 10.1016/j.urology.2007.09.025.
• Dimitrakov JD, Kaplan SA, Kroenke K, Jackson JL, Freeman MR. Management of chronic prostatitis/chronic pelvic pain syndrome: an evidence-based approach. Urology. 2006 May;67(5):881-8. doi: 10.1016/j.urology.2005.12.015. No abstract available.
• Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281. doi: 10.1016/s0090-4295(01)01138-4.

Study record dates

Study Major Dates

• Study Start: January 1, 2006
• Primary Completion (Actual): June 1, 2011
• Study Completion (Actual): June 1, 2011

Study Registration Dates

• First Submitted: May 7, 2008
• First Submitted That Met QC Criteria: May 7, 2008
• First Posted (Estimate): May 9, 2008

Study Record Updates

• Last Update Posted (Estimate): February 3, 2017
• Last Update Submitted That Met QC Criteria: February 2, 2017
• Last Verified: February 1, 2014

More Information

Terms related to this study

• Keywords: Urgency; Frequency; Chronic pelvic pain syndrome; Urinary Bladder, Overactive; Painful bladder syndrome; Prostatitis; Cystitis, Interstitial
• Additional Relevant MeSH Terms: Pathologic Processes; Urologic Diseases; Urinary Bladder Diseases; Lower Urinary Tract Symptoms; Urological Manifestations; Pain; Neurologic Manifestations; Disease; Prostatic Diseases; Urinary Bladder, Overactive; Syndrome; Cystitis; Cystitis, Interstitial; Pelvic Pain; Prostatitis
• Other Study ID Numbers: 2010P000226; R01DK081647 (U.S. NIH Grant/Contract)