Long-Term Health Outcomes in Children Born With Hirschsprung's Disease and Anorectal Malformations at the Colorectal Centre of Excellence in Quebec

NCT07603232 | Enrolling By Invitation

• 1 other identifier: 2026-10997
• Study Type: observational
• Target: 999
• Locations: 1 country
• Sites: 1

Brief Summary

The COCOE Registry is a long-term research registry based at the Montreal Children's Hospital Colorectal Centre of Excellence (COCOE) in Montreal, Quebec. It is the first prospective registry of its kind in Canada for children with two specific colorectal conditions: Hirschsprung's disease (HD) and anorectal malformations (ARM). What are these conditions? Hirschsprung's disease is a condition present at birth in which nerve cells are missing from part of the large intestine, making it difficult or impossible to pass stool normally. Anorectal malformations are a group of birth defects that affect the way the rectum and anus are formed. Both conditions require surgery early in life and can have lasting effects on a child's health, bowel function, quality of life, and development. Children and families affected by these conditions often face ongoing medical needs, including bowel management programs, follow-up surgeries, and psychosocial support - sometimes well into adulthood. Why is this registry needed? Despite the significant lifelong impact of these conditions, Canada does not yet have a national database that tracks how children with HD and ARM are doing over time. Without this information, it is difficult to understand which treatments work best, how outcomes vary across different regions or populations, and what support families need most. This registry aims to fill that gap by building a rich, long-term dataset that can inform better care for current and future patients. What is the goal of this study? The primary goals of the COCOE Registry are to: (1) establish Canada's first prospective registry for children with HD and ARM; (2) collect detailed information on diagnoses, treatments, and clinical outcomes over time; (3) understand how these conditions affect children's well-being, quality of life, and family functioning through validated patient-reported surveys; (4) identify differences in care and outcomes across regions and populations; and (5) understand why some patients are lost to follow-up and how to better support continuity of care. Who can participate? Children between 0 and 17 years of age who have been diagnosed with Hirschsprung's disease or an anorectal malformation and are receiving care at the Montreal Children's Hospital COCOE clinic are eligible to participate. Both newly diagnosed children and those who have been followed for some time are welcome. Participation requires informed consent from the patient and/or their parent or caregiver. What does participation involve? Participation does not involve any extra medical tests, procedures, or clinical visits beyond what is already part of the child's regular care. At each clinic visit, a member of the research team will collect information from the child's medical record, including diagnosis details, surgical history, and clinical assessments. Families will also be asked to complete short, validated surveys about the child's quality of life, bowel symptoms, general well-being, and how the family is coping. These surveys can be completed during the clinic visit, at home on paper, or online. There is no cost to participate and no financial compensation is provided, though participants will receive a certificate of participation if they wish. How long will children be followed? Children will be followed from enrollment until they turn 18 years old. The registry itself has no planned end date and will continue enrolling new patients on an ongoing basis. It is estimated that approximately 96 new patients will join the registry each year. How will data be protected? All data collected will be de-identified - participants will be assigned a unique registry ID, and their names will not appear on any data collection forms. Data will be stored securely in REDCap, a validated research database hosted at the Research Institute of the McGill University Health Centre (RI-MUHC). Only authorized members of the research team will have access. Participants may withdraw from the registry at any time, and their data will be destroyed upon request. Who is conducting this study? The COCOE Registry is led by Dr. Hussein Wissanji, Pediatric Surgeon and Principal Investigator, with co-investigator Dr. Etienne St-Louis, both from the Harvey E. Beardmore Division of Pediatric Surgery at Montreal Children's Hospital. The study has been approved by the McGill University Health Centre Research Ethics Board (REB No. 2026-10997). Funding is provided through internal research funds. How will findings be shared? Results from the registry will be shared through scientific publications, conference presentations, and patient-friendly materials such as blog posts and infographics, developed with input from patient and family partners. Individual participant results will not be shared, but families can request access to their own registry file to verify the accuracy of their data.

Conditions

Anorectal Malformation; Hirschprung's Disease; Colo-rectal Surgery; Fecal Incontinence

Keywords

Hirschsprung Disease; Anorectal Malformations; Colorectal Disorders; Fecal Incontinence; Patient Registry; Pediatric Surgery; Long-Term Outcomes; Bowel Management

Outcome Measures

Primary Outcomes (2)

• Clinical Outcomes

  Surgical complications

  from enrollment to age 18

• Bowel function and continence status

  Baylor Continence Score

  assessed at each clinic visit from enrollment to age 18

Interventions

No intervention (observational study) OTHER

No interventions

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of pediatric patients aged 0 to 17 years with a confirmed diagnosis of Hirschsprung's disease (HD) or an anorectal malformation (ARM) who are receiving care at the Colorectal Centre of Excellence (COCOE) at Montreal Children's Hospital, McGill University Health Centre, in Montreal, Quebec, Canada. Both newly diagnosed patients and those with previously established diagnoses who are returning for ongoing follow-up care are eligible for enrollment. The registry enrolls patients across the full pediatric age spectrum, from the newborn period through late adolescence, allowing for longitudinal tracking of outcomes across critical developmental stages including infancy, early childhood, school age, and the transition to adulthood. Patients are followed until they reach 18 years of age, at which point data collection stops and participants are invited to re-consent as adults if continued follow-up is desired.

You may qualify if:

• Age 0 to 17 years at time of enrollment
• Documented diagnosis of Hirschsprung's disease or an anorectal malformation
• Receiving care at the Montreal Children's Hospital Colorectal Centre of Excellence (COCOE)
• Patient and/or parent, caregiver, or authorized representative is able to provide informed consent or assent in accordance with applicable institutional and ethical requirements

You may not qualify if:

• Age 18 years or older at time of enrollment
• No confirmed diagnosis of Hirschsprung's disease or anorectal malformation
• Unable to provide informed consent or assent

Sponsors & Collaborators

• McGill University Health Centre/Research Institute of the McGill University Health Centre: lead

Study Sites (1)

Muhc-Ri-Muhc

Montreal, Quebec, Canada

Location

MeSH Terms

Conditions

Anorectal Malformations; Fecal Incontinence; Hirschsprung Disease

Interventions

Observation

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Rectal Diseases; Intestinal Diseases; Gastrointestinal Diseases; Megacolon; Colonic Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 18 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor, Surgery and Pediatric Surgery

Study Record Dates

• First Submitted: May 12, 2026
• First Posted: May 22, 2026
• Study Start: August 26, 2025
• Primary Completion (Estimated): December 31, 2035
• Study Completion (Estimated): December 31, 2035
• Last Updated: May 22, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)