Young Pectus Excavatum Patients and Genetic Defects

NCT ID: NCT05443113

Last Updated: 2022-07-05

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 18 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-09-01
• Study Completion Date: 2020-10-01

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

Conditions

Genetic Disease; Pectus Excavatum; Children, Adult

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Children (<11 years) with pectus excavatum

All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic

Genetic analysis

Intervention Type: DIAGNOSTIC_TEST

Genetic analysis by geneticists

Interventions

Genetic analysis

Genetic analysis by geneticists

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• None

• Minimum Eligible Age: 0 Years
• Maximum Eligible Age: 11 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Erasmus Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Ryan Billar

Principal investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

René M Wijnen

Role: PRINCIPAL_INVESTIGATOR

Erasmus Medical Center

Locations

Erasmus Medical Center

Rotterdam, South Holland, Netherlands

Countries

Netherlands

References

Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM. Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation. Eur J Pediatr Surg. 2024 Aug;34(4):325-332. doi: 10.1055/a-2081-1288. Epub 2023 Apr 26.

Reference Type: DERIVED

PMID: 37100424 (View on PubMed)

Other Identifiers

MEC-2012-387

Identifier Type: -

Identifier Source: org_study_id