View clinical trials related to Hirschsprung Disease.
Filter by: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.
Hirschsprung's disease (HD) is a rare congenital disease (1:5000) characterized by neonatal functional low bowel obstruction that is caused by aganglionosis of the distal bowel. HD treatment consists in surgery of colonic reduction in the early childhood, requiring afterward a long-term follow-up. In the long term complications (incontinence, constipation, enterocolitis, soiling)but also iterative anesthesia in childhood and repeated hospitalizations can have negative effects on child's development. The main aim of the study is to estimate neuropsychological development at school age (6-10 years). Of children operated of HD Secondary aims are evaluation of the neuro-driving development and global health, comparison of quality of life levels to those of French population standards as well as to study the complex relations between on one hand the quality of life of these children and on the other hand the socio-demographic data, the initial clinical elements and the surgical coverage, as well as their health and current cognitive profile. This multicenter study included pediatric surgery departments of Marseille. All children born between 1/1/2005 and 31/12/2010 and presenting HD represent the population. All the families will be contacted resting on the networks of set up follow-up. A written agreement will be collected with the parents. For all the participating children, a consultation will be organized: quality of life data (reported by children and by their parents in validated standardized questionnaires), clinical examination of the child, cognitive profile of the child. The duration of inclusion is scheduled for 12 months. This is the first French study using auto-reported data on children's quality of life at school age affected by a HD. The results of this study will allow developing hypotheses on predictive risk factors for neuropsychological development disorders. Besides a better knowledge of the relation existing between these children quality of life and their functional results due to the disease could help clinicians in their medical reflections.
Hirschsprung disease is a congenital abnormality due to the lack of migration of neural crest cells in myenteric and submucosal plexi of the bowel wall. The consequence is the absence of parasympathetic control of the distal bowel from the anal sphincter to various levels. The most common type of Hirschsprung disease alters the rectosigmoid (80%). The incidence is around 1/5000 live births. This anomaly requires a surgical ablation of the aganglionic segment. Regardless of the surgical complications, patients with Hirschsprung disease are exposed to the risk of Hirschsprung Associated EnteroColitis (HAEC). This variable risk, 4-54%, is responsible to a major part of Hirschsprung disease morbimortality. Its onset is more frequent during the first two years of life and then decrease with age. Its pathogenesis remains unclear but could be due to intestinal homeostasis breakdown that involves microbiota, intestinal barrier, immune system and enteric nervous system. This breakdown of the mutual benefit relation due to microbiota or bowel anomaly is known to be responsible of Crohn's disease onset. Some studies emphasize the role of microbiota in the pathogenesis of HAEC, but the techniques or the methodology with small numbers of patients limit any conclusion or clinical use. The study hypothesizes microbiota is a major factor in HAEC onset and in their functional bowel problems. Considering HAEC is more frequent the first two years, it's thought that intestinal microbiota changes with time in those patients. This project is innovative because it will use high throughput sequencing methods and analysis for microbiome analysis on fecal samples from a multicenter cohort of patients at various ages. Multicentre transversal study. This study has the potential to significantly modify clinical practice for Hirschsprung disease patients: a better care for HAEC and functional troubles thanks to a better understanding of their microbiota, targetted antibiotic treatment for HAEC, prophylactic treatment of patients at high risk of HAEC.
3D high resolution anorectal manometry (3DHRAM) is the most precise tool to assess function and 3D topographic picture of pressures along the anal canal. Until now, it has been used only in adult population to evaluate defecatory disorders. Congenital anorectal disorders are severe conditions and may present wide spectrum of symptoms from gastrointestinal tract. The usefulness of the 3DHRAM hasn't been evaluated in children after surgery for anorectal disorders such as Hirschsprung's disease and anorectal malformations. It may help for better understanding of pathophysiology of anorectal area and allow for planning improved procedures in these patients. Moreover, the investigators study may elucidate the real usefulness of the procedure in management of disorders of gastrointestinal tract in pediatric population.
The present study was designed to compare the efficacy of conservative treatment to operative treatment for improvement of constipation symptoms in infants with short or normal-segment Hirschsprung disease.
Enterocolitis(EC) is the most common and serious postoperative complication of Hirschsprung's disease(HD) with high morbidity and mortality. Probiotics are live microbes that, when administered in adequate amounts, confer health benefit to the host.Based on this previous knowledge on the beneficial effects of probiotics during pro-inflammatory conditions of the gastrointestinal tract, investigators hypothesized that oral probiotics could decrease the incidence and severity of Hirschsprung's disease associated enterocolitis(HAEC).Investigators conducted a prospective, multicenter, randomized and controlled trial to assess whether oral probiotics could decrease the incidence and severity of Hirschsprung's disease associated enterocolitis(HAEC).
Patients undergoing routine rectal suction biopsy will undergo as part of the study an additional Endoscopic mucosal resection. The biopsy results will also be correlated with patient's clinical data including clinical history, Bristol stool scale, anorectal manometry results, and SITZ marker studies. Cost and recovery time will be compared.
Prospective, randomized, controlled trial to test if post-operative administration of probiotics in HD patients will lead to a reduction in the occurrence of HAEC.