Identifying Genetic Causes of IC/BPS

Interstitial Cystitis Clinical Trial

Official title:

Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome/Chronic Pelvic Pain Syndrome (IC/BPS/CPPS)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00389142
• Other study ID #: 04-11-160
• Secondary ID: 91208
• Status: Recruiting
• Start date: January 15, 2006
• Est. completion date: December 31, 2026

Study information

• Verified date: April 2023
• Source: Boston Children's Hospital
• Contact: Elicia A Estrella, MS, LCGC
• Phone: 617-919-4552
• Email: elicia.estrella[@]childrens.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS), or chronic pelvic pain syndrome(CPPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another.

In this study, we are collecting genetic material and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS/CPPS. We are enrolling families and individuals with IC/BPS/CPPS and their family members (both family members with and without IC like symptoms).

Description:

We are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS)/chronic pelvic pain syndrome (CPPS). We will enroll individuals and families with IC/BPS/CPPS to fully describe the symptoms of IC/PBS/CPPS in adults and children. We will attempt to determine if the symptoms of IC/PBS/CPPS match or indicate changes in specific genes or a pathway of connected genes. We will use several genetic technologies including but not limited to; linkage analysis, whole exome sequencing and candidate gene studies to try to identify the cause of IC/BPS/CPPS. We hope this will lead us to better more effective treatments for affected individuals. We are looking for families with IC/BPS/CPPS symptoms to give a DNA sample (from blood/saliva), urine samples, bladder tissue from clinical biopsy and answer several questionnaires. Travel to Boston NOT necessary.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 750
• Est. completion date: December 31, 2026
• Est. primary completion date: December 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Week to 100 Years

Eligibility

Inclusion Criteria:

• Diagnosis of IC/BPS/CPPS

• Males and females of any age

• Urinary frequency - more than 1X/hour, and/or

• Dysuria, and/or

• Pelvic, suprapubic, or abdominal pain - for 3 months or longer

• Nocturia

• Normal urinary stream (by history)

• No evidence of active bacterial UTI (no pyuria & negative urinary culture for last 3 months)

• First degree relative of someone with above symptoms

Exclusion Criteria:

• Major structural/anatomical urinary tract abnormalities by ultrasound

• Underlying inborn conditions affecting the urinary tract

• Surgery/chemotherapy affected pelvic area

• GI or GU cancers

• Severe Constipation in children only

Related Conditions & MeSH terms

• Bladder Pain Syndrome
• Chronic Pelvic Pain Syndrome
• Cystitis
• Cystitis, Interstitial
• Interstitial Cystitis
• Pelvic Pain
• Somatoform Disorders
• Syndrome

Locations

Country	Name	City	State
United States	Boston Children's Hospital (BCH)	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Boston Children's Hospital

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	observational study	Outcome is candidate or causative genes for causing IC/BPS.	through study completion, average of 10 years