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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT05443113
Other study ID # MEC-2012-387
Secondary ID
Status Completed
Phase
First received
Last updated
Start date September 1, 2019
Est. completion date October 1, 2020

Study information

Verified date July 2022
Source Erasmus Medical Center
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical 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. 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?


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


Recruitment information / eligibility

Status Completed
Enrollment 18
Est. completion date October 1, 2020
Est. primary completion date October 1, 2020
Accepts healthy volunteers No
Gender All
Age group N/A to 11 Years
Eligibility Inclusion Criteria: - Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic Exclusion Criteria: - None

Study Design


Intervention

Diagnostic Test:
Genetic analysis
Genetic analysis by geneticists

Locations

Country Name City State
Netherlands Erasmus Medical Center Rotterdam Zuid-Holland

Sponsors (1)

Lead Sponsor Collaborator
Erasmus Medical Center

Country where clinical trial is conducted

Netherlands, 

Outcome

Type Measure Description Time frame Safety issue
Primary Incidence of genetic variations Incidence of genetic variations in children (<11 years) with pectus excavatum Baseline
Secondary 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 Through study completion, an average of 1 year
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