Genetic Study of Chronic Prostatitis/Chronic Pelvic Pain Syndrome (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.

Recruiting

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Key information

Conditions

Chronic Prostatitis (CP) Benign Frequency Syndrome (BFS) Chronic Pelvic Pain Syndrome (CPPS) Cystitis Cystitis, Interstitial Dyspareunia Erectile Dysfunction Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genital Diseases Genital Diseases, Female Genital Diseases, Male Interstitial Cystitis Male Urogenital Diseases Mental Disorders Neurologic Manifestations Pain Painful Bladder Syndrome (PBS) Pathological Conditions, Signs and Symptoms Pelvic Pain Sexual Dysfunction, Physiological Sexual Dysfunctions, Psychological Signs and Symptoms Urinary Bladder Diseases Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital (BCH)

Boston, Massachusetts, 02115, United States

Location status: Recruiting

Location contact

Catherine Brownstein, PhD

PRINCIPAL_INVESTIGATOR

Elicia Estrella, MS, LCGC

CONTACT

[email protected]

617-919-4552

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Participants With Candidate Disease-Causing Genetic Variant(s) Associated With CP/CPPS or IC/BPS

Time frame: From enrollment until completion of genetic analysis for the participant or family, up to 22 years.

DNA from blood/saliva and, when available, bladder or skin tissue will be analyzed using linkage analysis, whole exome/genome sequencing, and candidate gene approaches to identify candidate disease-causing variants associated with CP/CPPS, IC/BPS, PBS, or BFS. The measure will be summarized as the number of participants with candidate disease-causing variant(s), and when applicable, co-segregation of variants with affected status or symptoms.

Study contacts

Contact information is provided by the study sponsor or research team.

Elicia Estrella, MS, LCGC

CONTACT

[email protected]

617-919-4552

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Registry information

Acronym: CP/CPPS

Important dates

Study start: 2007
Primary completion: 2027
Study completion: 2028
First posted: Jul 11, 2007
Registry last updated: Jun 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed