An observational study in Hirschsprung Disease, sponsored by NYU Langone Health. Recruiting at 1 site in United States. Open to participants aged 1 Week to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-06-04.
Sponsored by NYU Langone Health · Observational
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.
Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are associated with other birth defects such as Down syndrome, deafness, hypopigmentation, and congenital central hypoventilation syndrome. Hirschsprung disease is a genetic condition with autosomal dominant, autosomal recessive, and multigenic patterns of inheritance described.
Dr. Aravinda Chakravarti's laboratory has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty five years. The goal of this research study is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies. Specifically, the study aims to determine the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR. Further, the study will collect clinical information and investigate possible genotype - phenotype correlations.
Molecular analysis using markers and sequencing, and statistical analysis of these data will be used to identify regions of human chromosomes where putative HSCR disease genes may be located. In addition, the DNA sequence of known and/or suspected HSCR genes will be assessed in individual patients and their family members, in search of causative HSCR susceptibility variants and variants that may affect presentation of the disease and treatment outcomes. Phenotypic information will include pathology, surgical, and other clinical outcomes related to Hirschsprung disease. This study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.
This study asks volunteers to:
63 studies on the registry are indexed under Hirschsprung Disease; 24 are open to participants now.
This study's planned enrollment of 3,000 is above the median of 300 across 31 observational studies indexed under Hirschsprung Disease.
Browse Hirschsprung Disease studies →NYU Langone Health is the lead sponsor of 1,430 studies on the registry; 258 are open to participants now.
Of its 235 completed or terminated interventional studies of FDA-regulated products, 197 (84%) have results posted.
Counted across the registry records on this site, refreshed daily.
The study population includes individuals with Hirschsprung disease and their family members.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
- 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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Individuals with Hirschsprung disease and their affected and unaffected relatives.
Other: Identification of genetic causes of Hirschsprung Disease
Blood, 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.
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 enrollment
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 enrollment
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 enrollment
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 enrollment
Correlation of genetic variants with risk for enterocolitis in Hirschsprung disease
Time frame: Baseline clinical data is obtained up to 1 year after enrollment
Characterization of Hirschsprung disease that co-occurs with a known chromosomal disorder
Time frame: Baseline clinical data is obtained up to 1 year after enrollment
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 enrollment
Characterization of Hirschsprung disease that co-occurs with other congenital anomalies without a known diagnosis
Time frame: Baseline clinical data is obtained up to 1 year after enrollment
Correlation of genetic variants with need for repeat pull-through surgery in Hirschsprung disease
Assessment of complications that lead to eventual repeat pull-through surgery
Time frame: Baseline clinical data is obtained up to 1 year after enrollment and follow up data is obtained up to 100 years after enrollment
Correlation of genetic variants with difficulty controlling stools after pull-through surgery
Time frame: Baseline clinical data is obtained up to 1 year after enrollment and follow up data is obtained up to 100 years after enrollment
Correlation of genetic variants with chronic constipation after pull-through surgery
Time frame: Baseline clinical data is obtained up to 1 year after enrollment and follow up data is obtained up to 100 years after enrollment
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