Genetic DiseaseNCT05443113
Young Pectus Excavatum Patients and Genetic Defects
An observational study of Genetic Disease and Pectus Excavatum, run by Erasmus Medical Center at 1 site in Netherlands.
Trial summary
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Read more about this study
- Who is it for?
- Ages 0 to 11 years
- Conditions the study is for
- Genetic Disease, Pectus Excavatum, Children, Adult
- What is being tested?
- Genetic analysis
- How many people
- 18 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Sep 2019to 1 Oct 2020
- 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 0 to 11 years
- All sexes
- No healthy volunteers
- Child
Study population: Patients with pectus excavatum aged younger than 11 years
Who may be able to join
- Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Therefore, the research question is; is early-onset pectus excavatum (PE) more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence?
Read the detailed description
Importance: In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group.
Objective: the investigators hypothesize that early-onset PE is more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence.
Design: Cohort study Setting: Single center Participants: All pediatric PE patients aged younger than 11 years upon first visit of the outpatient clinic of the department of pediatric surgery at the Sophia Children's Hospital - Erasmus Medical Center between 2014 and 2020 were identified and informed consent was obtained for inclusion. Two clinical geneticists performed the anamnesis and physical examination. Molecular analysis was performed based on the differential diagnosis. All young PE patients which have been referred for genetic counseling already, were analyzed retrospectively.
Main Outcome: incidence of genetic defects
- Conditions
- Genetic Disease, Pectus Excavatum, Children, Adult
- Being tested
- Genetic analysis
- Keywords
- Pectus excavatum, Children, Gene, Syndrome
- Medical subject headings
- Genetic Diseases, Inborn, Funnel Chest, Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic analysisDiagnostic test
Genetic analysis by geneticists
| Study group | Role | What they receive |
|---|---|---|
| Children (<11 years) with pectus excavatum | All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic Receives: Diagnostic Test: Genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of genetic variations
Incidence of genetic variations in children (<11 years) with pectus excavatum
Measured: Baseline
Secondary outcomes (1)
Evaluation checklist referral of a patient with pectus excavatum for genetic counseling
Evaluation and validation of checklist referral of a patient with pectus excavatum for genetic counseling
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2022
- Study start1 Sep 2019
- Primary completion1 Oct 2020
- Study completion1 Oct 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Genetic 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- Erasmus Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ryan Billar, Erasmus Medical Center
- Investigators
- René M Wijnen, Principal investigator, Erasmus Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05443113
- Sponsor's protocol ID
- MEC-2012-387
- Status last verified
- Jul 2022
- First submitted
- 28 Jun 2022
- Last updated
- 5 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: In a scientific journal with a high impact factor
Publications
Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM. Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation. Eur J Pediatr Surg. 2024 Aug;34(4):325-332. doi: 10.1055/a-2081-1288. Epub 2023 Apr 26.
PubMed 37100424
Study at a glance
From the registry record, last updated by the sponsor on 5 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect
- ClinicalTrials.gov ID
- NCT05443113
- Acronym / sponsor ID
- MEC-2012-387
- Conditions
- Genetic Disease, Pectus Excavatum, Children, Adult
- Keywords
- Pectus excavatum, Children, Gene, Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Erasmus Medical CenterUniversity, hospital or other
- Study start
- 1 Sep 2019 (actual)
- Primary completion
- 1 Oct 2020 (actual)
- Study completion
- 1 Oct 2020 (actual)
- First posted
- 5 Jul 2022 (actual)
- 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.
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Therefore, the research question is; is early-onset pectus excavatum (PE) more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence?
Detailed description
Importance: In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group.
Objective: the investigators hypothesize that early-onset PE is more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence.
Design: Cohort study Setting: Single center Participants: All pediatric PE patients aged younger than 11 years upon first visit of the outpatient clinic of the department of pediatric surgery at the Sophia Children's Hospital - Erasmus Medical Center between 2014 and 2020 were identified and informed consent was obtained for inclusion. Two clinical geneticists performed the anamnesis and physical examination. Molecular analysis was performed based on the differential diagnosis. All young PE patients which have been referred for genetic counseling already, were analyzed retrospectively.
Main Outcome: incidence of genetic defects
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children (<11 years) with pectus excavatum | – | Diagnostic Test: Genetic analysisAll pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic |
Who may qualify
- Ages
- 0 to 11 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Patients with pectus excavatum aged younger than 11 years
Key inclusion criteria (1 listed)
- Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic
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.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic analysisGenetic analysis by geneticists | Diagnostic test | Children (<11 years) with pectus excavatum |
Primary outcome
Incidence of genetic variations
Time frame: Baseline
Incidence of genetic variations in children (<11 years) with pectus excavatum
1 secondary outcome
Evaluation checklist referral of a patient with pectus excavatum for genetic counseling
Time frame: Through study completion, an average of 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jul 2022.
- Derived from this study: PubMed 37100424Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM. Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation. Eur J Pediatr Surg. 2024 Aug;34(4):325-332. doi: 10.1055/a-2081-1288. Epub 2023 Apr 26.
- Individual participant dataSharing planned: Yes. In a scientific journal with a high impact factor
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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.
René M Wijnen principal investigator
Erasmus Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease and Pectus Excavatum, run by Erasmus Medical Center at 1 site 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: finished, as of the sponsor's last update on 5 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of genetic variations (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05443113, which also lists 1 linked publication.
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 5 Jul 2022.