An observational study in Genetic Disease, Pectus Excavatum and Children, Adult, sponsored by Erasmus Medical Center. Completed at 1 site in Netherlands. Open to participants aged 0 Years to 11 Years. Per ClinicalTrials.gov, last updated 2022-07-05.
Sponsored by Erasmus Medical Center · Observational
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?
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
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's enrollment of 18 is below the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Erasmus Medical Center is the lead sponsor of 478 studies on the registry; 183 are open to participants now.
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Patients with pectus excavatum aged younger than 11 years
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Exclusion Criteria:
All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic
Diagnostic Test: Genetic analysis
Genetic analysis by geneticists
Incidence of genetic variations
Incidence of genetic variations in children (\<11 years) with pectus excavatum
Time frame: Baseline
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
Time frame: Through study completion, an average of 1 year
Plan to share: Yes — In a scientific journal with a high impact factor
Supporting information: Study protocol, Statistical analysis plan, Informed consent form, Clinical study report
Time frame: 6 months
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This study is completed, as verified in Jul 2022. You cannot join it, but the record below documents what was studied.
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