Current Research Studies



What is the goal of the study?

Birth defects are a common cause of infant morbidity and mortality. Our goal is to find new ways to prevent birth defects. We are particularly interested in birth defects that cause intestinal motility disorders, including Hirschsprung disease, a potentially fatal disorder of enteric nervous system development. Many children with Hirschsprung disease have other birth defects, so we study diverse congenital disorders. Objectives: We want to learn more about what causes Hirschsprung disease, associated birth defects, and complications of this disease. By identifying genetic and non-genetic risk factors that impact these diseases, we hope to find new ways to reduce the risk of Hirschsprung disease and associated birth defects.Our goal is to find new ways to diagnose, characterize, treat and prevent this disorder. A secondary objective is to establish a registry/repository for intestinal motility disorders including Hirschsprung disease. We are participating in this study as a site in a multicenter trial. The coordinating center is using a protocol that is studying disorders other than Hirschsprung disease, including pancreatic and liver diseases. We will only be recruiting subjects with Hirschsprung disease, and their immediate family members (parents and siblings) The protocol supplied by the coordinating center also describes bio sample collection procedures that we will not be participating in, such as exhaled air, saliva, intestinal luminal contents and others. We will only be collecting: Stool from subjects with Hirschsprung disease (six timepoints) Blood from subjects with Hirschsprung disease, single timepoint, to coincide with a clinical draw. One time blood collection from consenting parents and siblings of subjects with Hirschsprung disease. The sponsor's protocol describes conducting a Pregnancy Health Interview (section 5.1.4). We will not be participating in this part of the study. We have been asked to participate in this multicenter trial specifically to recruit patients with Hirschsprung disease, and their parents/siblings and to only collect blood and stool. Therefore, the absence of these other sample collection procedures will not be a protocol deviation. These deviations from the sponsor's protocol are outlined in the site supplement.

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team: