Genetics of Hirschsprung's Disease - Can Genetic Mosaisicm Due to Early Somatic Mutations Explain Disease Development?

Genetics of Hirschsprung's Disease - Can Genetic Mosaisicm Due to Early Somatic Mutations Explain Disease Development? - Genetic Mosaicism in Hirschsprung's Disease

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41360

Enrollment

105

Registered

2013-03-05

Start date

2013-04-18

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital intestinal aganglionosis

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients with Hirschsprung*s Disease undergoing a routine pull through procedure

Exclusion criteria

Exclusion criteria: Refusal from parents

Design outcomes

Primary

Measure	Time frame
To identify the existence of genetic mutations that play a role in the development en severity of Hirschsprung*s disease.	—

Secondary

Measure	Time frame
To identify if genetic mosaicism exists and if this mosaicism contributes to the development of Hirschsprungs disease. And to identify if the found genetic mutations can be linked to the type of Hirschsprungs disease and the chance to develop post-operative enterocolitis.	—

Countries

Netherlands

Outcome results