Clinical trial NCT00675298: Linkage Analysis in Interstitial Cystitis
Official title: Genetic Studies of Urologic Chronic Pelvic Pain Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Prostatitis
Cystitis, Interstitial
Urinary Bladder, Overactive
Chronic Pelvic Pain Syndrome
Painful Bladder Syndrome
Keywords: Prostatitis
Cystitis, Interstitial
Urinary Bladder, Overactive
Chronic pelvic pain syndrome
Painful bladder syndrome
Urgency
Frequency
Lead sponsor: Beth Israel Deaconess Medical Center
Sponsor class: OTHER
Collaborators: name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2008-05-09
Enrollment: 300
Sex: ALL
Minimum age (years): 3
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Self-referred patients and subjects from a Bulgarian high-prevalence CPPS population

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Jordan D Dimitrakoff
state: Massachusetts
Study officials:
affiliation: Beth Israel Deaconess Medical Center
name: Jordan D Dimitrakoff, MD, PhD
role: STUDY_CHAIR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.