Hirschsprung Disease Genetic Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Sponsor:
Information provided by (Responsible Party):
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:
NCT00478712
First received: May 24, 2007
Last updated: February 5, 2014
Last verified: August 2013

May 24, 2007
February 5, 2014
January 2001
March 2020   (final data collection date for primary outcome measure)
Discovery of new genes and gene variants associated with Hirschsprung disease [ Time Frame: throughout study ] [ Designated as safety issue: No ]
Not Provided
Complete list of historical versions of study NCT00478712 on ClinicalTrials.gov Archive Site
Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes [ Time Frame: throughout study ] [ Designated as safety issue: No ]
Not Provided
Not Provided
Not Provided
 
Hirschsprung Disease Genetic Study
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.

Observational
Observational Model: Family-Based
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

Study volunteers are asked to provide blood or cheek swab/saliva samples. DNA is extracted from the samples for use in the study.

Non-Probability Sample

The study population includes individuals with Hirschsprung disease and their family members.

Hirschsprung Disease
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
3000
Not Provided
March 2020   (final data collection date for primary outcome measure)

Inclusion Criteria:

1. individuals with Hirschsprung disease and their first degree relatives (any segment length of disease, with or without other congenital anomalies or health problems, single or multiple affected individuals in family)

Exclusion Criteria:

  1. unable or unwilling to provide sample for genetic studies
  2. individual, parent, or guardian unable to comprehend and provide informed consent
Both
Not Provided
Yes
Contact: Courtney Berrios, ScM 410-502-7541 hirschsprung@jhmi.edu
Contact: Aravinda Chakravarti, PhD 410-502-7525 hirschsprung@jhmi.edu
United States
 
NCT00478712
R01HD28088
No
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not Provided
Principal Investigator: Aravinda Chakravarti, PhD Johns Hopkins University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
August 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP