Hirschsprung Disease Genetic Study
ConditionHirschsprung Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-100
SponsorNYU Langone Health
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
Unable or unwilling to provide sample for genetic studies
Individual, parent, or guardian unable to comprehend and provide informed consent
Trial population
The study population includes individuals with Hirschsprung disease and their family members.
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Identification of genetic causes of Hirschsprung Disease
Other interventionBlood, saliva, or DNA samples are requested from all study participants. The blood or saliva samples are used to isolate DNA in all participants. Blood samples are also used to establish cell lines in some participants.
Treatment groups
3,000 Participants
are divided into 1 treatment groupGroup A: Families with Hirschsprung Disease1 intervention
Trial outcomes
Primary outcomes
1
Discovery and characterization of common genetic variation associated with Hirschsprung disease
Genome-wide assays of common genetic variation will be assessed using single nucleotide polymorphism (SNP) arrays
Time frame
DNA is isolated up to 1 year after enrollment2
Discovery and characterization of copy number variants associated with Hirschsprung disease
Copy number variation will be detected using next generation sequencing data and high resolution microarrays that allow for detection of copy number variants across the genome
Time frame
DNA is isolated up to 1 year after enrollment3
Discovery and characterization of rare genetic variation associated with Hirschsprung disease
Exome sequencing will be used to detect rare variation across all genes in the genome
Time frame
DNA is isolated up to 1 year after enrollmentSecondary outcomes
1
Correlation of genetic variants with location of transition zone in Hirschsprung disease
Pathology records and surgical records will be used to determine transition zone
Time frame
Baseline pathology data is obtained up to 1 year after enrollment2
Correlation of genetic variants with risk for enterocolitis in Hirschsprung disease
Time frame
Baseline clinical data is obtained up to 1 year after enrollment3
Characterization of Hirschsprung disease that co-occurs with a known chromosomal disorder
Time frame
Baseline clinical data is obtained up to 1 year after enrollment4
Characterization of Hirschsprung disease that co-occurs with a known single gene syndrome
Time frame
Baseline clinical data is obtained up to 1 year after enrollmentSponsors and contacts
Click on the lead sponsor to view all of their trials.
NYU Langone Health
Lead sponsor
New York University
Collaborator
Source ClinicalTrials.gov