Identifying Genetic Causes of IC/BPS | NCT00389142

Studies
Identifying Genetic Causes of IC/BPS

NCT00389142

Sponsor

Boston Children's Hospital

Status

Recruiting

Last Update Posted

Dec 16, 2025Actual

Enrollment

1,000Estimated

Phase

Not provided

Conditions

Interstitial Cystitis
Bladder Pain Syndrome

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
91208	Other Grant/Funding Number	Broad Institute

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 15, 2006Actual

Primary Completion Date

Dec 31, 2030Estimated

Completion Date

Dec 31, 2030Estimated

First Submitted Date

Oct 17, 2006

First Submission Date that Met QC Criteria

Oct 17, 2006

First Posted Date

Oct 18, 2006Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 9, 2025

Last Update Posted Date

Dec 16, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Catherine Brownstein, Assistant Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's HospitalPrincipal Investigator

Lead Sponsor

Boston Children's HospitalOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) 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, the investigators are collecting genetic material via blood or saliva and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS. The investigators are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.

Detailed Description

The investigators are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). The investigators are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. The investigators are attempting to determine if there is a connection between symptoms of IC/PBS and changes in specific genes or a pathway of connected genes. The investigators will use several genetic technologies including but not limited to; linkage analysis, genome sequencing, RNAseq and candidate gene studies to try to identify the cause of IC/BPS. Once the investigators identify the cause of IC/BPS they will be able to identify and design more effective treatments for affected individuals. The investigators are looking for families with IC/BPS symptoms to give a DNA sample (from blood/saliva), urine samples, and answer several questionnaires. Travel to Boston NOT necessary.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1,000Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
1 cohort		All participants will undergo genome sequencing and urinalysis studies.

Interventions

Not provided

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Diagnosis of IC/BPS
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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Year

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

The investigators are collecting patients throughout North America (including the United States and Canada)

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Elicia A Estrella, MS, LCGC	Contact	617-919-4552		elicia.estrella@childrens.harvard.edu
Stephanie Brewster, MS, LCGC	Contact			Stephanie.Brewster@childrens.harvard.edu

Overall Officials

Name	Affiliation	Role
Catherine Brownstein, Ph.D.	Boston Children's Hosptial	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Boston Children's Hospital (BCH)	Recruiting	Boston	Massachusetts	02115	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
11489726	Background	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.
36910591	Result	Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2022 Nov 27;4(1):2200013. doi: 10.1002/ggn2.202200013. eCollection 2023 Mar.

ID	Term
D018856	Cystitis, Interstitial
D017699	Pelvic Pain

ID	Term
D003556	Cystitis
D001745	Urinary Bladder Diseases
D014570	Urologic Diseases
D052776	Female Urogenital Diseases