This page is dedicated to the Bladder Exstrophy-Epispadias Complex (BEEC) research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Bladder Exstrophy-Epispadias Complex research study, established at Boston Children’s in 2023 [previous study history], is led by Drs. Ted Lee, Nina Mann, Richard Lee, and Joseph Borer, and has enrolled 112 patients and their families. The study aims to identify genetic causes of BEEC and provide personalized medicine.

Disease information

Bladder exstrophy-epispadias complex (BEEC) is a spectrum of rare congenital conditions that include:

  • Bladder exstrophy
  • Cloacal exstrophy
  • Epispadias

These conditions affect the development of the lower urinary tract, reproductive tracts, and, in some cases, the gastrointestinal tract and the musculoskeletal system. During a baby’s development in the womb, the abdominal wall and underlying organs sometimes don’t fuse properly, and the infant is born with the bladder and urethra inside out and exposed on the outside of the body. Learn more about BEEC.

It is estimated that 5-10% of individuals with BEEC have an underlying genetic cause for their condition. In his interview on Youtube: Meet Dr. Ted Lee, MD | Boston Children's Hospital, Dr. Lee discusses why he believes that genetics will drive personalized care for individuals with BEEC.

Key outcomes

To date, the study has had a 13 percent diagnostic yield, and an additional 10 percent of patients have candidate findings that are being researched further. 

Participate in research

Physicians may refer their patients with diagnoses of BEEC to Drs. Lee and Mann. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Mann’s and Dr. Lee’s studies, including the BEEC study, on Dr. Lee's research profile and Dr. Mann's publications.

Patient care

Patients and families with bladder exstrophy-epispadias complex can be seen by an expert multidisciplinary team at the Boston Children’s Bladder Exstrophy Program. Learn more about BEEC.

Patient stories

Just a few months into his young life, Henry traveled from the Netherlands to Boston, where he underwent a 14-hour surgical repair for bladder exstrophy. After the successful surgery, the family returned home, and Henry recovered without any setbacks. Although, like most kids with bladder exstrophy, he’ll likely need additional procedures as he gets older, the future looks bright. Read about Henry’s bladder exstrophy journey here.

Investigators

Divisions

Notable publications by investigators

  1. Excision of Vesicoureteral Junction Endometriosis with Ureteroneocystostomy: Tenets of Surgical Management.
  2. Genetic Contributions to Lower Urinary Tract Dysfunction.
  3. Updates on the Care of Cloacal Exstrophy.
  4. Multi-Institutional Bladder Exstrophy Consortium After 8 Years: The Short- and Intermediate-Term Outcomes.
  5. Male epispadias repair: Outcomes at three sites prior to the establishment of a multi-institutional collaboration.
  6. Pelvic Ectopic Kidney Prevalence and Pressure Changes During Cloacal Exstrophy (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Syndrome) Closure.
  7. Exstrophy-Epispadias Complex.
  8. Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years.

Disease support organizations

Association for the Bladder Exstrophy Community

Association for the Bladder Exstrophy Community (A-BE-C) is an international support network for patients and families living with bladder exstrophy providing education, support, and resources to help them navigate the medical and psychosocial issues relating to exstrophy.

Trusted sites