Hirschsprung Disease Genetic Study
Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Genetic Analysis of Hirschsprung Disease|
- Discovery of new genes and gene variants associated with Hirschsprung disease [ Time Frame: throughout study ] [ Designated as safety issue: No ]
- Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes [ Time Frame: throughout study ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Study volunteers are asked to provide blood or cheek swab/saliva samples. DNA is extracted from the samples for use in the study.
|Study Start Date:||January 2001|
|Estimated Primary Completion Date:||March 2020 (Final data collection date for primary outcome measure)|
Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.
We ask study volunteers to:
- complete a medical/family history questionnaire
- provide access to some medical records
- submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available)
If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00478712
|Contact: Courtney Berrios, ScMemail@example.com|
|Contact: Aravinda Chakravarti, PhDfirstname.lastname@example.org|
|United States, Maryland|
|Institute of Genetic Medicine||Recruiting|
|Baltimore, Maryland, United States, 21205|
|Principal Investigator:||Aravinda Chakravarti, PhD||Johns Hopkins University|