Young Pectus Excavatum Patients and Genetic Defects

Genetic Disease Clinical Trial

Official title:

Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05443113
• Other study ID #: MEC-2012-387
• Status: Completed
• 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
• 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

Related Conditions & MeSH terms

• Children, Adult
• Funnel Chest
• Genetic Disease
• Genetic Diseases, Inborn
• Pectus Excavatum

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