Genetic investigation of Hirschsprung disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Sacral nerve stimulation for children with bowel motility problems

  This project tests sacral neuromodulation in children aged 3–18 with gastrointestinal motility disorders to see if imaging-guided, personalized implantation improves symptoms.

  Recruiting Friedrich-Alexander-Universität Erlangen-Nürnberg · Erlangen · NCT07519915

• Nursing support to reduce parental stress for newborns with Hirschsprung's disease

  This study tests whether extra nursing support can help reduce stress for parents caring for newborns with Hirschsprung's disease before their surgery.

  Recruiting Assistance Publique Hopitaux De Marseille · Marseille · NCT06650683

• Exploring nerve cell growth in children with Hirschsprung's Disease

  This study is trying to see if nerve stem cells in the bowel of children with Hirschsprung's Disease can grow into healthy nerve cells to help improve their bowel function.

  Recruiting Alder Hey Children's NHS Foundation Trust · Liverpool, Merseyside · NCT06590142

• Registry for Rare Diseases

  This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.

  Recruiting Hospital Italiano de Buenos Aires · Buenos Aires, Buenos Aires · NCT06573723

• Examining how different feeding methods affect gut health in newborns with gastrointestinal issues

  This study is testing whether feeding newborns with gastrointestinal issues an exclusive human milk diet helps improve their gut health and feeding progress compared to standard feeding methods.

  Recruiting Seattle Children's Hospital · Seattle, Washington · NCT06072976

• Long-term outcomes for children with Hirschsprung's disease and anorectal malformations

  This study looks at how well children with Hirschsprung's disease and anorectal malformations are doing in the long run after their surgeries to help families understand their health and quality of life better.

  Recruiting Alder Hey Children's NHS Foundation Trust · Liverpool, Merseyside · NCT05450991

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.