Genetic Disease Clinical Trial
Official title:
Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect
Verified date | July 2022 |
Source | Erasmus Medical Center |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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?
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 |
Country | Name | City | State |
---|---|---|---|
Netherlands | Erasmus Medical Center | Rotterdam | Zuid-Holland |
Lead Sponsor | Collaborator |
---|---|
Erasmus Medical Center |
Netherlands,
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 |
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