Young Pectus Excavatum Patients and Genetic Defects

NCT05443113 | Completed

• 1 other identifier: MEC-2012-387
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

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?

Conditions

Genetic Disease; Pectus Excavatum; Children, Adult

Keywords

Pectus excavatum; Children; Gene; Syndrome

Outcome Measures

Primary Outcomes (1)

• Incidence of genetic variations

  Incidence of genetic variations in children (\<11 years) with pectus excavatum

  Baseline

Secondary Outcomes (1)

• Evaluation checklist referral of a patient with pectus excavatum for genetic counseling

  Through study completion, an average of 1 year

Study Arms (1)

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

Interventions

Genetic analysis DIAGNOSTIC_TEST

Genetic analysis by geneticists

Children (<11 years) with pectus excavatum

Eligibility Criteria

• Age: 0 Years - 11 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients with pectus excavatum aged younger than 11 years

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Erasmus Medical Center: lead

Study Sites (1)

Erasmus Medical Center

Rotterdam, South Holland, 3015CE, Netherlands

Location

Related Publications (1)

• 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.

  PMID: 37100424 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Saliva

MeSH Terms

Conditions

Genetic Diseases, Inborn; Funnel Chest; Syndrome

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Disease; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• René M Wijnen

  Erasmus Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: June 28, 2022
• First Posted: July 5, 2022
• Study Start: September 1, 2019
• Primary Completion: October 1, 2020
• Study Completion: October 1, 2020
• Last Updated: July 5, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Time Frame: 6 months

Locations

NL (1)