Hirschsprung DiseaseNCT01927809
Genetic Mosaicism in Hirschsprung's Disease
An observational study of Hirschsprung Disease, run by Erasmus Medical Center at 2 sites in Netherlands.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Hirschsprung Disease
- How many people
- 90 participants
- Where
- 2 sitesNetherlands
- Study dates
- Apr 2013to Aug 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Patients will be selected in the two participating hospitals. The Erasmus MC - Sophia Children's hospital and the UMC St. Radboud.
Who may be able to join
- All children with Hirschsprung's disease that will receive a corrective pull through procedure
Who cannot join
- None
Trial locations and contacts
2 sites in 1 country.
Netherlands2 sites, 2 recruiting
- Recruiting
UMC St Radboud
Nijmegen, Gelderland, 6525GA
Ivo Blaauw, MD, PhD, +31243611111, i.deblaauw@chi.umcn.nl
Ivo Blaauw, MD
- Recruiting
Erasmus Medical Center - Sophia
Rotterdam, South Holland, 3015GJ
Katherine MacKenzie, +31107044473, k.mackenzie@erasmusmc.nl
Rhiana Garritsen-Farid, r.garritsen@erasmusmc.nl
About this study
Official title: Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?
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.
- Conditions
- Hirschsprung Disease
- Keywords
- Hereditary Diseases, Colon
- Medical subject headings
- Hirschsprung Disease, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
New somatic mutation
Primary outcome measure of this study is to identify new (previously unknown) somatic mutations as a cause for the development of Hirschsprung's disease. Tissue to find these mutations will be gathered during surgery for all patients (see protocol). When sufficient samples are collected (est 25 samples) a first comparative analysis for new somatic mutations will be performed. After the end of the study a final analysis for new somatic mutation will be performed.
Measured: During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion)
Secondary outcomes (1)
Correlation disease type
Secondary outcome measure is to assess if any of the found mutations can be correlated with the type of Hirschsprung's disease (i.e. long-segment, short segment). This will be done after all patients DNA is analysed for somatic mutations after closure of the study.
Measured: At the end of the study (approximately 3 years after inclusion of first patient)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Aug 2013 (estimated)
- Study startApr 2013
- Primary completionDec 2020 (estimated)
- Study completionAug 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hirschsprung DiseaseStudies of the same condition, open and under way.
- More trials run by Erasmus Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Erasmus Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, R. Garritsen, Erasmus Medical Center
- Investigators
- Rhiana Garritsen, MD, Principal investigator, Erasmus MC - SophiaKatherine MacKenzie, Principal investigator, Erasmus Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01927809
- Sponsor's protocol ID
- NL42585.078.12
- Status last verified
- Apr 2017
- First submitted
- 8 Jul 2013
- Last updated
- 7 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?
- ClinicalTrials.gov ID
- NCT01927809
- Acronym / sponsor ID
- NL42585.078.12
- Conditions
- Hirschsprung Disease
- Keywords
- Hereditary Diseases, Colon
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Erasmus Medical CenterUniversity, hospital or other
- Study start
- Apr 2013
- Primary completion
- Dec 2020 (estimated)
- Study completion
- Aug 2021 (estimated)
- First posted
- 23 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Patients will be selected in the two participating hospitals. The Erasmus MC - Sophia Children's hospital and the UMC St. Radboud.
Key inclusion criteria (1 listed)
- All children with Hirschsprung's disease that will receive a corrective pull through procedure
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
New somatic mutation
Time frame: During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion)
Primary outcome measure of this study is to identify new (previously unknown) somatic mutations as a cause for the development of Hirschsprung's disease. Tissue to find these mutations will be gathered during surgery for all patients (see protocol). When sufficient samples are collected (est 25 samples) a first comparative analysis for new somatic mutations will be performed. After the end of the study a final analysis for new somatic mutation will be performed.
1 secondary outcome
Correlation disease type
Time frame: At the end of the study (approximately 3 years after inclusion of first patient)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Apr 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Rhiana Garritsen, MD principal investigator
Erasmus MC - Sophia
Katherine MacKenzie principal investigator
Erasmus Medical Center
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hirschsprung Disease, run by Erasmus Medical Center at 2 sites in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 7 Apr 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Katherine MacKenzie (+31107044473, k.mackenzie@erasmusmc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
New somatic mutation (time frame: During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Apr 2017; AzTrials last refreshed its copy on 6 Nov 2026.