Linkage Analysis in Interstitial Cystitis (IC)

Beth Israel Lahey Health

Status: Completed

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

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00675298

R01DK081647 (U.S. NIH Grant/Contract)

2010P000226

Details and patient eligibility

About

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.

Enrollment: 300 estimated patients

Sex: All

Ages: 3 to 80 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

300 participants in 5 patient groups

1

Description:

Men with chronic prostatitis/chronic pelvic pain syndrome

2

Description:

Women with painful bladder syndrome/interstitial cystitis

3

Description:

Children with overactive bladder

4

Description:

Bulgarian cohort with chronic prostatitis/chronic pelvic pain syndrome, painful bladder syndrome/interstitial cystitis and children with overactive bladder

5

Description:

Asymptomatic healthy controls