Clinical trial NCT00389142: Identifying Genetic Causes of IC/BPS
Official title: Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Interstitial Cystitis
Bladder Pain Syndrome
Keywords: pelvic pain
urinary frequency
painful bladder
urinary urgency
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2006-10-18
Enrollment: 1000
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: We are collecting patients throughout North America (including the United States and Canada)

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, we 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. We 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: We are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). We are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. We 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. We 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 we identify the cause of IC/BPS we will be able to identify and design more effective treatments for affected individuals. We 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.

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

Primary outcomes:
measure: observational study
timeFrame: through study completion, average of 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital (BCH)
state: Massachusetts
Study officials:
affiliation: Boston Children's Hosptial
name: Catherine Brownstein, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.