Active clinical trials for "Hirschsprung Disease"

The investigatoris will carefully select cartilage-hair hypoplasia patients unexposed to varicella (VZV) and immunize patients in a controlled manner with VZV vaccine. Patients will be selected on the basis of disease severity and the degree of immunodeficiency (including CD4+ T-cell counts). Any potential complication of VZV immunization, such as rash, will be discussed with the patients/caregivers beforehand and acyclovir will be used to treat any VZV related symptoms, consistent with the current practices. The investigators will verify the development of immune response to vaccination by testing for VZV antibodies and cell-mediated immunity.

Hirschsprung's disease (HD) is diagnosed shortly after birth and is characterized by the presence of megacolon. HD is caused when ganglion cells of the enteric nervous system (ENS) in the wall of the large intestine do not develop before birth. This results in a lack of gastrointestinal motility and leads to stool obstruction. It is known that ablation of enteric nerves is associated with intestinal infection and inflammation. Indeed the most severe complication in HD is Hirschsprung's associated enterocolitis (HAEC), characterized by explosive diarrhea, abdominal distension, fever and impending septic shock. Bacteria overgrowth and changes in colonic mucosal immune cell populations during HAEC suggest a possible defect in mucosal immune homeostasis. Under steady state conditions, the mucosal immune system must be tightly controlled to avoid harmful reactions against commensal flora and food antigens, while allowing protective immune responses against invading pathogens. This balance between tolerance and defense is influenced by the mucosal microenvironment, which in turn determines the phenotype and stability of mucosal immune cell populations. The goal of this project is to understand if the enteric nervous system plays a role in regulating mucosal immunity and how this might contribute to the development of HAEC.

Children with chronic constipation, suspected of having hirschsprungs disease, who are admitted for rectal biopsy will be included in the study. During the procedure, electrophysiological reading from the site chosen for biopsy will be done. Correlation between electrophysiological data and histopathology will be analyzed.

The investigators previously reported a simple diagnostic scoring system to differentiate Hirschsprung disease (HD) from Hirschsprung disease allied disorders (HAD) in the patients with suspected intestinal dysganglionosis. In the retrospective study, the investigators concluded that the patients with a predicting score of more than 5 are more likely to be diagnosed with HD, whereas a score less than 5 is mostly indicative of HAD. Since it is essential to confirm the accuracy and efficacy of the scoring system in a prospective manner before it is used as a standard procedure, this prospective study is designed and performed.

The current diagnostic process of colonic motility disorders often takes a long time and involves multiple invasive, painful and/or unnecessary diagnostic procedures. To improve this diagnostic process, the potential of Electro-Entero-Graphy (EEnG) is investigated. During the EEnG procedure, several surface electrodes are positioned (under ultrasound guidance) on the abdomen so that electrical activity originating in the colon can be measured. Measurements will be performed after a period of fasting (when the colon is 'silent') and just after a meal (when the colon is moving) in both participants suffering from colonic motility disorders and healthy controls. It is hypothesized that these measurements are an indication of colonic motility and can be used as a diagnostic tool for colonic motility disorders. It is also hypothesized that this EEnG procedure is not more burdensome than the Gold Standard procedures for diagnosing colonic motility disorders. This will be assessed using questionnaires.

The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.

The Hirschsprung and anorectal malformation quality of life (HAQL) questionnaire is a disease-specific quality of life questionnaire with 5 different elements (3 questionnaires for patients (categories: age 8-11, 12-16, and >17 years) and two questionnaires for parents of patients (categories: patients aged 8-11 and 12-16 years). In the first part of this study, the questionnaires will be translated via forward-backward-translation, culturally adapted and evaluated for content validity. In the second part of the study, the questionnaires will be validated in a cohort of all eligible Hirschsprung patients from Odense University Hospital from 1985-2014.

Hirschsprungs Associated Enterocolitis (HAEC) with incidence up to 30% postoperatively. The objective of the trial is to prevent postoperative HAEC by using Probiotics.

This study is a multi-centre, international, prospective cohort study of congenital anomalies to compare outcomes between LMICs and high-income countries (HICs) globally.

Hirschsprung disease (HD) is associated with significant morbidities including long-term bowel dysfunction. The aim of this study was to update national and regional trends in the epidemiology and inpatient care utilization of HD in the United States between 2009 and 2014 using the National Inpatient Sample (NIS).