Hirschsprung Disease Genetic Study
|First Received Date ICMJE||May 24, 2007|
|Last Updated Date||February 15, 2012|
|Start Date ICMJE||January 2001|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00478712 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Hirschsprung Disease Genetic Study|
|Official Title ICMJE||Genetic Analysis of Hirschsprung Disease|
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.
Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years and has played an important role in identifying several genes involved. However, there is more work to be done in clarifying the genetic basis of HSCR. The aims of the study are to continue the search for genes involved in Hirschsprung disease, to further characterize known genes, and improve our understanding of how genes interact to lead to the disorder. Our expectation is that the study will lead to better understanding of the genetics of Hirschsprung disease and, further down the road, improved diagnosis, treatment, and genetic counseling.
Study volunteers are individuals with Hirschsprung disease and their family members. Study volunteers are asked to complete a medical/family history questionnaire and to submit blood samples (or cheek swab/saliva samples) from the individual(s) affected with Hirschsprung disease and, if available, his/her parents. The researchers may also ask for access to some medical records. Interested participants will receive a study kit in the mail, which includes the questionnaire, consent forms, and blood collection and shipping supplies. The study will reimburse participants for costs associated with the blood draw.
In the laboratory, DNA is extracted from the samples and a variety of methods are used to study individual DNA sequences. Individual results are not disclosed but newsletters are distributed with updates about the study's findings. Please contact the study coordinator, Courtney Berrios, for more information.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Family-Based
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|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.
|Sampling Method||Non-Probability Sample|
The study population includes individuals with Hirschsprung disease and their family members.
|Condition ICMJE||Hirschsprung Disease|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||2000|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00478712|
|Other Study ID Numbers ICMJE||R01HD28088|
|Has Data Monitoring Committee||No|
|Responsible Party||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Study Sponsor ICMJE||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Verification Date||February 2012|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP