Young Pectus Excavatum Patients and Genetic Defects

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?

Study Overview

• Status: Completed
• Conditions: Genetic Disease; Children, Adult; Pectus Excavatum
• Intervention / Treatment: Diagnostic test: Genetic analysis

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 Type: Observational
• Enrollment (Actual): 18

Contacts and Locations

Study Locations

• Netherlands
  • Zuid-Holland
    • Rotterdam, Zuid-Holland, Netherlands, 3015CE
      • Erasmus Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 11 years (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with pectus excavatum aged younger than 11 years

Description

Inclusion Criteria:

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

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Children (<11 years) with pectus excavatum; All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic	Diagnostic test: Genetic analysis; Genetic analysis by geneticists

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of genetic variations	Incidence of genetic variations in children (<11 years) with pectus excavatum	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Erasmus Medical Center
• Investigators: Principal Investigator: René M Wijnen, Erasmus Medical Center

Study record dates

Study Major Dates

• Study Start (ACTUAL): September 1, 2019
• Primary Completion (ACTUAL): October 1, 2020
• Study Completion (ACTUAL): October 1, 2020

Study Registration Dates

• First Submitted: June 28, 2022
• First Submitted That Met QC Criteria: July 1, 2022
• First Posted (ACTUAL): July 5, 2022

Study Record Updates

• Last Update Posted (ACTUAL): July 5, 2022
• Last Update Submitted That Met QC Criteria: July 1, 2022
• Last Verified: July 1, 2022

More Information

Terms related to this study

• Keywords: Children; Syndrome; Gene; Pectus excavatum
• Additional Relevant MeSH Terms: Congenital Abnormalities; Musculoskeletal Diseases; Bone Diseases; Musculoskeletal Abnormalities; Bone Diseases, Developmental; Genetic Diseases, Inborn; Funnel Chest
• Other Study ID Numbers: MEC-2012-387

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: In a scientific journal with a high impact factor
• IPD Sharing Time Frame: 6 months
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No