Young Pectus Excavatum Patients and Genetic Defects

Completed

• Conditions: Genetic Disease; Children, Adult; Pectus Excavatum
• Interventions: Diagnostic Test: Genetic analysis

• Registration Number: NCT05443113
• Lead Sponsor: Erasmus Medical Center

Brief 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?

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 Timeline

• Study Start: 2019-09-01
• Primary Completion: 2020-10-01
• Study Completion: 2020-10-01
• Study First Submitted: 2022-06-28
• Status Verified: 2022-07
• Study First Submitted QC: 2022-07-01
• Last Update Submitted: 2022-07-01
• Study First Posted: 2022-07-05
• Last Update Posted: 2022-07-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 18

Inclusion Criteria

• Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic

Read More

Exclusion Criteria

• None

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Children (<11 years) with pectus excavatum	Genetic analysis	All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic

Primary Outcome Measures

Name	Time	Method
Incidence of genetic variations	Baseline	Incidence of genetic variations in children (\<11 years) with pectus excavatum

Secondary Outcome Measures

Name	Time	Method
Evaluation checklist referral of a patient with pectus excavatum for genetic counseling	Through study completion, an average of 1 year	Evaluation and validation of checklist referral of a patient with pectus excavatum for genetic counseling

Trial Locations

Locations (1)

Erasmus Medical Center; 🇳🇱 Rotterdam, Zuid-Holland, Netherlands