Genetic Studies in Interstitial Cystitis (IC)

Conditions:Chronic Pain, Other Indications, Psychiatric, Women's Studies, Pain, Urology
Therapuetic Areas:Musculoskeletal, Nephrology / Urology, Psychiatry / Psychology, Other, Reproductive
Age Range:Any - 100
Start Date:January 15, 2006
End Date:December 31, 2021
Contact:Elicia A Estrella, MS, LCGC

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

Interstitial cystitis (IC), also called painful bladder syndrome (PBS), 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/PBS/CPPS. We are
enrolling families and individuals with IC/PBS/CPPS and their family members (both family
members with and without IC like symptoms).

We are trying to identify a genetic cause of interstitial cystitis (IC)/painful bladder
syndrome (PBS)/chronic pelvic pain syndrome (CPPS). By enrolling families we aim 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. We will use several
genetic tests; linkage analysis, whole exome sequencing and candidate gene studies. This will
help us decipher the cause of IC and lead us to be able to find better more effective
treatments for affected individuals. We are looking for families with IC/PBS/CPPS symptoms to
give a DNA sample (from saliva), urine samples and answer 2 questionnaires. Travel to Boston
NOT necessary.

Inclusion Criteria:

- Diagnosis of IC/PBS/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

- 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
We found this trial at
Boston, Massachusetts 02115
Phone: 617-919-4552
Boston, MA
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