Clinical Research Directory

Comparative Research Between Swenson and Soave Operations for Pediatric Patients Who Have Hirschsprung Disease

Hirschsprung's disease is characterized by a lack of enteric nervous system ganglion cells (aganglionosis) in a variable extent of distal bowel. It is the commonest congenital bowel motility disorder and affected neonates usually present with distal intestinal obstruction in the first few days of life. Despite the common underlying pathology of Hirschsprung disease, it has varying presentations. Infants classically present with delayed passage of meconium, feeding intolerance, and bilious emesis. In fact, 90% of children with Hirschsprung will not have passage of stool within the first 24 h of life. Neonates and infants can also present with abdominal distension, failure to thrive, enterocolitis, or bowel perforation. Hirschsprung's disease is characterized by a variable length of distal colonic aganglionosis. In approximately 80% of cases, it is short-segment, and only involves the rectosigmoid colon. Less commonly, it can extend proximal to the sigmoid colon (15%), include the entire colon (total colonic aganglionosis, 5%), or rarely, the entire intestine (total intestinal aganglionosis). The principles of the operation are to remove the aganglionic colon and connect the normally innervated bowel just above the anus, at a level which prevents further functional obstruction, but at the same time preserves fecal continence. The surgical treatment of Hirschsprung's disease has evolved from the historical three-stage procedure to a single-stage technique. Since then, multiple series reported its safety, efficacy, and feasibility in the management of HSCR in the neonatal period. Swenson and Bill, Soave, and Duhamel are the most common procedures for Hirschsprung's disease. However, there is a heated debate about which technique gives the best short- and long-term outcomes. There are many surgical approaches to Hirschsprung's disease, including the transabdominal approach (TAB) and transanal endorectal pull-through (TERPT). The TAB includes 4 types: the Swenson, Duhamel, Rehbein, and Soave procedures. Both the Swenson and the Soave procedures have been adapted as transanal approaches. Transanal access is based on the traditional surgical techniques performed previously in abdominal approach. This type of surgery is used for the treatment of small children. Transanal endorectal pull-through method performed with transanal access is characterized by low invasiveness of surgery and good results of treatment. The Swenson procedure involves the removal of the entire affected site and end-to-end anastomosis of the normal colonic anal canal. In the Soave procedure, physiological saline is injected into the rectum after cutting through the rectal muscle layer in a circular manner, while keeping the mucosa intact to the dentate line level.

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

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.

Babies With Enterocolitis - A Study of Faecal Calprotectin in Hirschsprung Disease (The BEACH Study)

Babies with Hirschsprung's Disease are born without normal nerves to the end of their bowel which means they cannot poo properly, and are at high risk of infection of the bowel, called enterocolitis. 1 in 4 children with Hirschsprung's Disease develop enterocolitis and, if not treated quickly, it can lead to death. The symptoms include a swollen tummy, temperatures and diarrhoea but it can be hard to spot, especially in the early stages, and there is no test for it. In some diseases, a substance called calprotectin is found in the poo when the bowel is inflamed. The investigators plan to collect poo samples from children with Hirschsprung's Disease and measure the calprotectin, to see if it can help the investigators predict which children are at highest risk of enterocolitis. When the investigators collect the poo we will ask parents some questions about their child's diet and poos over the week before, and how easy it was to collect the sample. This is a pilot study, which means the investigators don't expect to get a definite answer to whether measuring calprotectin levels will change treatment for children with Hirschsprung's disease. However, it will help the investigators find out if calprotectin levels are a useful test for bowel inflammation in these children and will tell us what parents' views are on collecting poo samples regularly. If it does look like measuring calprotectin is a useful test in Hirschsprung's disease, the investigators will do more studies to find out if some children may benefit from more intensive treatment.