Chest Wall Deformities in Children - Epidemiological Data

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stareEfectuat

Sponsorii

Universitätsklinikum Hamburg-Eppendorf

STUDIU CLINIC: NCT04448574

BioSeek: nct04448574

Cuvinte cheie

Abstract

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.

Descriere

Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal development of cartilage and bone and could therefore be crucial in the genesis of the disease. The main catalytic machinery responsible for the biosynthesis and breakage of sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited diseases that all have skeletal system deformities.

Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In contrast, there have so far been hardly any genetic studies of the isolated congenital chest wall deformities. Epidemiological data are insufficient and only a few groups deal with the inheritance and the incidence of this disease when it occurs in isolation.

Datele

Ultima verificare:	05/31/2020
Primul depus:	06/23/2020
Inscriere estimată trimisă:	06/24/2020
Prima postare:	06/25/2020
Ultima actualizare trimisă:	06/24/2020
Ultima actualizare postată:	06/25/2020
Data actuală de începere a studiului:	08/31/2019
Data estimată de finalizare primară:	05/31/2020
Data estimată de finalizare a studiului:	05/31/2020

Stare sau boală

Chest Wall Deformity

Funnel Chest

Intervenție / tratament

Other: Chest Wall Deformities Questionaire

Fază

Criterii de eligibilitate

Vârste eligibile pentru studiu	6 Years La 6 Years
Sexe eligibile pentru studiu	All
Metoda de eșantionare	Non-Probability Sample
Acceptă voluntari sănătoși	da
Criterii	Inclusion Criteria: - . 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 Exclusion Criteria: - Confirmation of another diagnosis associated with chest wall deformities: 1. Marfan syndrome 2. Noonan syndrome 3. Poland syndrome 4. Moebius syndrome 5. Cantrell Pentalogy 6. PHACE association

Rezultat

Măsuri de rezultate primare

1. familial accumulation of breast wall deformities Questionnaire [Through study completion, an average of 1 year]

Măsuri de rezultate secundare

1. Recording of clinical side effects on the familial accumulation of chest wall deformities [Through study completion, an average of 1 year]