Current Research Studies

Hirschsprung Disease Research Collaborative


What is the goal of the study?

Additional category of expedited review: 7. The objective of the Hirschsprung Disease Research Collaborative (HDRC) is to build a large collection of data and biological samples of individuals with HSCR by which genetic data can be linked to detailed and accurate phenotypic information about study participants. The goal of the genetic studies carried out with HDRC samples is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies. Specifically, we intend to ascertain the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR. Further, clinical information will be used to investigate possible genotype – phenotype correlations and their relationship with medical, surgical and pathological data on patients. Study Design and Statistical Analysis: All individuals with rectal biopsy diagnosed Hirschsprung disease and their unaffected relatives are eligible for consent. Individuals consented after rectal suction biopsy only will have confirmation of diagnosis by full-thickness biopsy or by examination of the resected specimen during surgery before samples are sent to the coordinating center for participation in the study. The study is discussed and consent obtained by the PI or other designee at HDRC institutions. At the time of enrollment, participants are asked to: provide information for completion of a medical/family history questionnaire for the individual with Hirschsprung disease, sign a release of medical records to the study coordinating center at JHU, and provide a blood sample for the affected individual and their parents. Medical records requested include pathology, operative, and further management records regarding treatment for Hirschsprung disease, as well as any records of additional birth defects or results of clinical genetic examination and testing. The requested blood sample is one 6.0 mL ACD solution whole blood sample for children under 12 years of age and two 8.5 mL ACD solution whole blood tubes for adults and children 12 years of age and over. The blood samples are processed at the coordinating center at JHU and used to isolate DNA, and establish cell lines in specific cases. Data from the questionnaire and medical records are entered into the study database.

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team: