Genetic investigation of Hirschsprung disease
Genetic Analysis of Hirschsprung Disease
This study is trying to find out which genetic changes cause Hirschsprung disease by looking at the DNA of people with the condition and their close family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3000 (estimated) |
| Ages | 1 Week to 100 Years |
| Sex | All |
| Sponsor | NYU Langone Health Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT00478712 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Hirschsprung disease, a genetic condition characterized by the absence of nerve cells in the intestines. The research aims to identify the genetic mutations responsible for this condition by utilizing whole genome mapping and sequencing techniques. It will also collect clinical data to explore the relationship between genetic variations and the clinical presentation of the disease. The study involves individuals with Hirschsprung disease and their first-degree relatives to better understand the inheritance patterns and potential genotype-phenotype correlations.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Hirschsprung disease and their first-degree relatives.
Not a fit: Patients who are unable or unwilling to provide genetic samples or cannot give informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic understanding and potential future therapies for Hirschsprung disease.
How similar studies have performed: Other studies investigating genetic factors in Hirschsprung disease have shown promise, indicating that this approach is supported by previous research.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: \- 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: * Unable or unwilling to provide sample for genetic studies * Individual, parent, or guardian unable to comprehend and provide informed consent
Where this trial is running
New York, New York
- New York University School of Medicine — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Aravinda Chakravarti, PhD — NYU Langone Health
- Study coordinator: Jenna Pucel, MS, CGC
- Email: jenna.pucel@nyulangone.org
- Phone: 212-263-8069
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.