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Interstitial Cystitis Study at Boston Children's Hospital Recruiting to Identify Genetic Markers

  [ 463 votes ]   [ Discuss This Article ]
By Editor • • February 25, 2007

About every 15 seconds a person in the U.S. is diagnosed with interstitial cystitis (IC) - a painful pelvic/urinary tract condition that is also frequently associated with Fibromyalgia, ME/CFS, and IBS. “Studies have suggested that the condition may be genetic and passed down (or inherited) from one generation to the next,” researchers at Boston Children’s Hospital note.

And now they’re recruiting IC patients – with a special emphasis on including younger patients age 8 and up – to “compare different families’ samples and medical information and determine which genetic factors may play a role in interstitial cystitis.” One requirement for inclusion will be that the patient have a “first degree relative” (parent, brother/sister, or child) with IC symptoms.

What is Interstitial Cystitis and How Frequent is It in FM and ME/CFS?

Interstitial cystitis is a condition with no known cure. Symptoms tend to be as outlined in the “Inclusion Criteria” below. It is common in both men and women, and frequently goes undiagnosed, owing partly to a lack of medical training in IC-related diagnosis/treatment training, and to a lack of public awareness.

Additionally, interstitial cystitis goes by several other names:

  • Painful bladder syndrome,
  • Hypersensitive bladder syndrome,
  • Chronic pelvic pain syndrome.

According to recent journal articles, “24.6 percent of IC patients exhibit symptoms of Fibromyalgia, compared with 3.2% of the general population,” and there is a theory that “IC might be a disease within the spectrum of chronic fatigue and pain syndromes.”

The Boston Childrens’ Hospital project - “Genetic Studies in Interstitial Cystitis” – number NCT00389142 – intends to “fully describe the phenotype of interstitial cystitis.” [A pheonotype is the pattern of genes that together manifest a trait that varies between individuals.] The study will recruit a group of patients in the United States and reportedly another in Bulgaria.

Criteria for Inclusion:

  • Males and females ages 8 and older
  • Urinary frequency – more than 1 time per hour, and/or
  • Dysuria (painful or difficult urination), and/or
  • Pelvic, suprapubic, or abdominal pain – for 3 months or longer
  • Previously normal voiding pattern (normal retrograde voiding cystourethrogram if done). A cystourethrogram is an examination of the bladder and lower urinary tract using a special form of X-ray called “fluoroscopy” and a contrast medium.
  • Nocturia (need to get up in the night to urinate)
  • Normal urinary stream (by history)
  • No evidence of active bacterial urinary tract infection (no pyuria, & negative urinary culture for last 3 months)
  • Must be first degree relative of someone with above symptoms.

Exclusion Criteria:

  • Major structural/anatomical urinary tract abnormalities by ultrasound
  • Underlying inborn conditions
  • Severe constipation.

Location and Contact Information:

Children’s Hospital, Boston, Massachusetts
Program in Genomics/Harvard Neuromuscular Disease Project
Jordan Dimitrakov, MD, PhD, Principal Investigator

Please refer to study by number NCT00389142
Contact Elicia Estrella, MS, CGC. Phone 617-919-4552. E-mail <a data-cke-saved-href="

Health Authority: U.S. Institutional Review Board

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