The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease

NCT04149093 | Unknown

• 1 other identifier: 2020-2597
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to compare the outcomes of patients with long segment Hirschsprung disease or total colonic aganglionosis who had negative calretinin staining and positive ganglion cells on the proximal resection margins to those who had both positive findings.

Conditions

Hirschsprung Disease; Ganglion; Hirschsprung Disease, Long-Segment; Hypoganglionosis

Outcome Measures

Primary Outcomes (1)

• Long-term outcomes (Quality of life questionnaire)

  To determine if calretinin has a role in the function of ganglion cells in long segment Hirschsprung disease and total colonic aganglionosis. HAQL (Hirschsprung's disease and Anorectal malformations Quality of Life) questionnaire. For each item the response is scored from 0 to 3 and then, linearly transformed to a 0 (minimum value) to 100 (maximum value) scale. Higher score suggests a better quality of life.

  1 year

Secondary Outcomes (2)

• Surgical complications

  1 year

• Functional outcomes

  1 year

Interventions

Calretinin staining DIAGNOSTIC_TEST

A paraffin-embedded hematoxylinphloxin-safran sections will be performed on tissue specimens of proximal resection margins to evaluate the presence or absence of ganglion cells. Immunohistochemistry (IHC) will then be done on paraffin-embedded sections for calretinin staining.

Also known as: Immunohistochemistry

Eligibility Criteria

• Age: 0 Years - 18 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Hirschsprung disease and a transition zone more proximal to the distal sigmoid

You may qualify if:

• Confirmed histopathological diagnosis of Hirschsprung disease from January 1, 1990 to August 31, 2019
• Long-segment Hirschsprung disease (type A and B)
• Total colonic aganglionosis (TCA)
• Surgery at CHUSJ
• Tissue blocks of proximal resection margin available for pathological analysis
• Minimum 1 month of postoperative follow-up

You may not qualify if:

• Short-segment Hirschsprung disease (conventional form, rectosigmoid junction)
• Total colonic with small bowel aganglionosis (TCSA)
• Surgery done at another institution
• Early deaths
• Lost to follow-up
• No documented post-operative outcome

Sponsors & Collaborators

• St. Justine's Hospital: lead

Study Sites (1)

CHU Sainte-Justine

Montreal, Quebec, H3T 1C5, Canada

RECRUITING

MeSH Terms

Conditions

Hirschsprung Disease; Ganglion Cysts

Interventions

Immunohistochemistry

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Megacolon; Colonic Diseases; Intestinal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cysts; Neoplasms; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Histocytochemistry; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Histological Techniques; Investigative Techniques; Immunologic Techniques

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: October 23, 2019
• First Posted: November 4, 2019
• Study Start: May 1, 2020
• Primary Completion: September 1, 2021
• Study Completion: December 1, 2021
• Last Updated: March 17, 2021

Record last verified: 2021-03

Locations

CA (1)