Chest Wall Deformities in Children - Epidemiological Data

NCT04448574 | Completed

• 1 other identifier: CWD2019
• Study Type: observational
• Target: 96
• Locations: 1 country
• Sites: 2

Brief Summary

Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The etiology of PE is largely undefined, but there are numerous indications that genetic factors play a role in the development of PE. Up to 40% of patients report affected family members with similar congenital deformities. In many families, PE follows a pattern that would be compatible with an autosomal dominant or recessive pattern of inheritance. The data on the frequent occurrence of PE in family members fluctuate greatly and only a few genes associated with a PE have been identified so far.

Conditions

Chest Wall Deformity; Funnel Chest

Outcome Measures

Primary Outcomes (1)

• familial accumulation of breast wall deformities Questionnaire

  Through study completion, an average of 1 year

Secondary Outcomes (1)

• Recording of clinical side effects on the familial accumulation of chest wall deformities

  Through study completion, an average of 1 year

Interventions

Chest Wall Deformities Questionaire OTHER

Questionaire about epidemiological data was sent to Patients and families

Eligibility Criteria

• Age: 6 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

All patients who presented themselves in the study hospitals with the diagnosis of a chest wall deformity (funnel breast, keel breast, sternum cleft)

You may qualify if:

• All patients who are in the Altona Children's Hospital or in the University Hospital Hamburg. Funnel breast, keel breast, sternal cleft
• A signed declaration of consent from the parents or legal guardians is available
• The patient has given a declaration of consent

You may not qualify if:

• Confirmation of another diagnosis associated with chest wall deformities:
• Marfan syndrome
• Noonan syndrome
• Poland syndrome
• Moebius syndrome
• Cantrell Pentalogy
• PHACE association

Sponsors & Collaborators

• Universitätsklinikum Hamburg-Eppendorf: lead

Study Sites (2)

University Hospital Hamburg Eppendorf - Department of pediatric surgery

Hamburg, 20246, Germany

Location

The Altona Children's Hospital

Hamburg, 22763, Germany

Location

MeSH Terms

Conditions

Funnel Chest

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Doctor

Study Record Dates

• First Submitted: June 24, 2020
• First Posted: June 26, 2020
• Study Start: September 1, 2019
• Primary Completion: June 1, 2020
• Study Completion: June 1, 2020
• Last Updated: December 7, 2021

Record last verified: 2021-12

Data Sharing

• IPD Sharing: Will not share

Locations

DE (2)