Frequently Asked Questions

Q: How can Collaborative Champions be a member of and contribute to the HDRC?

A: Collaborative Champions can provide thoughtful insight into the future direction of the project through quarterly conference calls, enroll patients and parents, gather a medical and family history questionnaire, submit surgical and pathological records, and collect blood samples (current) and colonic tissue (planned). Collaborative Champions may also contribute to HDRC research by accessing data for their own IRB-approved research studies.

Q: What options do Collaborative Champions have for participation in the HDRC?

A: Collaborative Champions who actively enroll individuals with Hirschsprung disease at their institutions will consent participants to the study, help to complete study documents, complete or arrange needed blood draws, and (in the future) collect colonic tissue samples if a compatible procedure is scheduled. This will require IRB approval at each Collaborative Champion’s institution and assistance with IRB approval will be provided by the coordinating center. Institutions may also choose to become junior collaborators who refer patients for enrollment at the coordinating center at Johns Hopkins University. Patients would be enrolled through Johns Hopkins, but Junior Collaborative Champions would be asked to assist with completing or arranging the blood draw. Your institution may allow this without IRB approval at your institution, with limitations, and the coordinating center can provide documentation discussing this option. We will include investigators as HDRC collaborators with level of contribution reflected in authorship and acknowledgment. When funding is sought, reimbursement will differ based on type of participation.

Q: What patients may be enrolled or referred into the HDRC Study by Collaborative Champions?

A:

  • Inclusion Criteria:

    1. individuals with Hirschsprung disease and their first degree relatives (any segment length of disease, with or without other congenital anomalies, simplex or multiplex family)

  • Exclusion Criteria:

    1. affected individual unable or unwilling to provide blood sample for genetic studies;

    2. unable to comprehend and provide informed consent.

Q: What is required of patients once they are enrolled into the HDRC Study?

A: Once consent is obtained, a medical and family history questionnaire, which will be made available to participating institutions, is administered and blood samples are collected from affected individuals and their parents (when available). One 6 mL ACD whole blood sample is requested for children under 12 years old and two 8.5 mL ACD whole blood tubes are requested for children 12 years and over and from parents. DNA is extracted from the blood and stored for use in studies; lymphocytes are also being planned for storage and for some individuals, a lymphoblastoid cell line may also be stored. Surgical and pathological records for affected individuals are also reviewed for confirmation of the transition zone and details of surgical treatment. In future study protocols, we are also interested in including gastrointestinal tissue collection at participating institutions with IRB approval.

Q: Where do I send study materials?

A: All study materials will be sent to Johns Hopkins University, which will act as the central coordinating center for this collaborative study. All packaging materials and air waybills will be provided by the coordinating center and study materials will be sent with FedEx Priority Overnight return packaging to:

  • Dallas Auer
    Johns Hopkins University
    733 N Broadway, Room 572
    Baltimore, MD 21205

Q: What is done with the study materials once they arrive at Johns Hopkins University?

A: Data from the study questionnaire is entered into a password protected laboratory database. DNA is extracted from the blood and stored for use in studies; blood cells are also stored. For individuals with multiple congenital anomalies a lymphoblastoid cell line is prepared and stored. Medical records are reviewed for confirmation of the transition zone and details of surgical treatment. Signed consent forms, study questionnaires, and medical records are stored in a locked file cabinet in the study coordinator’s office.

Q: Will patients enrolled in the study receive any results back from genetic tests completed for the study?

A: The laboratory completing genetic analyses for the HDRC does not have the Clinical Laboratory Improvement Amendments (CLIA) certifications required for returning results to patients. Therefore, we are not able to make individual study results available. If we did find a clinically actionable result that would affect the future health of a study patient, the study coordinator, a genetic counselor, would contact the COLLABORATIVE CHAMPION and patient directly and work with the patient and Collaborative Champion to confirm the result in a CLIA approved laboratory for return to the patient.

Q: What are the benefits of becoming a Collaborative Champion?

A: All Collaborative Champions will be recognized for their contributions through HDRC authorship or acknowledgement in resulting publications based on involvement and number of patients referred or enrolled. For an example of how the HDRC and its members would be included in papers, click here. Collaborative Champions will also be contributing intellectually and practically to research that will improve the information and care available for their future patients with Hirschsprung disease. Opportunities to access HDRC data for Collaborative Champion initiated, IRB-approved studies will also be available. Finally, we also plan to seek funding for sample collection that we hope to make available to Collaborative Champions.

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