Genetic Study of Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) (CP/CPPS)

Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is a condition with several causes of which some remain unknown. It is believed that some types of CP may be genetic or passed down (inherited) from one generation to the next.

In this study, we are collecting genetic material and medical information to try to determine if genetic factors play a role in CP/CPPS. We will be collecting DNA (from Blood/Saliva sample) and urine from each participant. Bladder tissue from affected individuals will also be collected. Individuals and families with CP/CPPS will be enrolled. Family members of an individual with CP/CPPS are eligible whether or not they also experience CP/CPPS symptoms.

Study Overview

• Status: Recruiting
• Conditions: Interstitial Cystitis; Chronic Prostatitis (CP); Chronic Pelvic Pain Syndrome (CPPS); Painful Bladder Syndrome (PBS); Benign Frequency Syndrome (BFS)

Detailed Description

We would like to determine if chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) has a genetic cause. We will be attempting to further describe the symptoms of CP/CPPS and to correlate them with changes in your genes. We will use several types of genetic testing; linkage analysis, whole exome sequencing and candidate gene studies. Each individual participant will be required to give a DNA sample (via Blood/Saliva), a urine sample and answer questionnaires. Affected participants will also be asked to provide a bladder sample from a clinical biopsy. All samples will be stored. Travel to Boston NOT required.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Elicia Estrella, MS, LCGC; Phone Number: 617-919-4552; Email: elicia.estrella@childrens.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital (BCH)
      • Contact: Elicia Estrella, MS, LCGC; Phone Number: 617-919-4552; Email: elicia.estrella@childrens.harvard.edu
      • Principal Investigator: Catherine Brownstein, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

We are collecting individuals with a diagnoses of CP/CPPS and their family members (with or without symptoms) from North America (United States and Canada). Preference is given to families with multiple affected individuals (males or females with IC/BPS/CPPS).

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, Interstitial Cystitis (IC), Bladder Pain Syndrome BPS, or Bladder Fasciculation Syndrome (BFS)
• Be willing to provide a blood/saliva, bladder tissue (from previous biopsy) and urine sample
• Agree to complete several brief questionnaires
• Family member of someone with CP/CPPS, BPS, IC or BFS
• Live in the USA or Canada

Exclusion Criteria:

• Major structural/anatomical urinary tract abnormalities
• Underlying inborn or congenital conditions which affect the urinary tract
• Surgery/chemotherapy in the pelvic area
• Bacterial cause to CP/CPPS or recurrent Urinary tract infections (UTI)
• Traumatic cause to CP/CPPS

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Investigators: Principal Investigator: Catherine Brownstein, PhD, Boston Children's Hospital

Publications and helpful links

General Publications

• Propert KJ, Alexander RB, Nickel JC, Kusek JW, Litwin MS, Landis JR, Nyberg LM, Schaeffer AJ; Chronic Prostatitis Collaborative Research Network. Design of a multicenter randomized clinical trial for chronic prostatitis/chronic pelvic pain syndrome. Urology. 2002 Jun;59(6):870-6. doi: 10.1016/s0090-4295(02)01601-1.
• Keay SK, Zhang CO. Abnormal Akt signalling in bladder epithelial cell explants from patients with interstitial cystitis/bladder pain syndrome can be induced by antiproliferative factor treatment of normal bladder cells. BJU Int. 2016 Jul;118(1):161-72. doi: 10.1111/bju.13457. Epub 2016 Mar 29.
• 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 (Actual): January 15, 2007
• Primary Completion (Estimated): December 31, 2025
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: July 9, 2007
• First Submitted That Met QC Criteria: July 9, 2007
• First Posted (Estimated): July 11, 2007

Study Record Updates

• Last Update Posted (Actual): August 14, 2023
• Last Update Submitted That Met QC Criteria: August 9, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: Pelvic pain; Erectile dysfunction; Urgency; Frequency; Sexual dysfunction; Painful intercourse
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Urologic Diseases; Urinary Bladder Diseases; Pain; Neurologic Manifestations; Disease Attributes; Disease; Prostatic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genital Diseases, Male; Genital Diseases; Syndrome; Cystitis; Chronic Disease; Somatoform Disorders; Cystitis, Interstitial; Pelvic Pain; Prostatitis
• Other Study ID Numbers: 04-11-160M; 91208 (Other Grant/Funding Number: Broad Institute)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data from individual participants may be shared with other researchers. Other research studies will be approved by our internal review board and participants samples and data will be de-identified.
• IPD Sharing Time Frame: We will store study information and samples indefinitely and may share this information with future collaborators. All shared samples and data will be de-identified.
• IPD Sharing Access Criteria: De-identified data may be shared with other CP/CPPS researchers or other BCH researchers
• IPD Sharing Supporting Information Type: SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No