Identifying Genetic Causes of IC/BPS

NCT ID: NCT00389142

Last Updated: 2025-12-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2006-01-15

Study Completion Date

2030-12-31

Brief Summary

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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

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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.

Conditions

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Interstitial Cystitis Bladder Pain Syndrome

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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1 cohort

All participants will undergo genome sequencing and urinalysis studies.

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Catherine Brownstein

Assistant Professor of Genetics and Pediatrics, Harvard Medical School

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Catherine Brownstein, Ph.D.

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hosptial

Locations

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Boston Children's Hospital (BCH)

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Elicia A Estrella, MS, LCGC

Role: CONTACT

617-919-4552

Stephanie Brewster, MS, LCGC

Role: CONTACT

Facility Contacts

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Elicia A Estrella, MS, LCGC

Role: primary

617-919-4552

Catherine Brownstein, PhD

Role: backup

617-355-4764

References

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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.

Reference Type BACKGROUND
PMID: 11489726 (View on PubMed)

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.

Reference Type RESULT
PMID: 36910591 (View on PubMed)

Other Identifiers

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91208

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

04-11-160

Identifier Type: -

Identifier Source: org_study_id

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