Clinical trialNCT01927809UnknownObservational

Genetic Mosaicism in Hirschsprung's Disease

SponsorErasmus Medical CenterEnrollment90Hirschsprung Disease

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon. This impairs bowel relaxation which can lead to bowel disfunction, toxic megacolon, ileus and enterocolitis. So far, several genes have been identified that play a role in Hirschsprung's disease. The precise mechanisms however, remain unclear. This study wants to identify new mutations and hopefully clarify more about the etiology of the disease.

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Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

Katherine MacKenzie
Erasmus Medical Center
Principal Investigator
clinicaltrials.gov ↗
Rhiana Garritsen, MD
Erasmus MC - Sophia
Principal Investigator
clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

2 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

Netherlands

Umc St Radboud
Nijmegen, Gelderland, Netherlands
Ivo Blaauw, MD
Recruiting
Erasmus Medical Center - Sophia
Rotterdam, South Holland, Netherlands
Katherine MacKenzieRhiana Garritsen-Farid, MD
Recruiting

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study — it may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 30 Apr 2013
Primary completion: 31 Dec 2020
Completion: 31 Aug 2021
Last update posted: 7 Apr 2017
Registered enrollment: 90
Registry id: NCT01927809

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.