Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)

• Conditions: Mucopolysaccharidoses

• Registration Number: NCT04637646
• Lead Sponsor: Assiut University

Brief Summary

This study aims to evaluate the different cardiac changes in the various types of MPS disorder and define the outcome of these cardiac abnormalities in those patients admitted to assuit University Children Hospital

Detailed Description

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present.

Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality. The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function.

Study Timeline

• Status Verified: 2020-11
• Study First Submitted: 2020-11-16
• Study First Submitted QC: 2020-11-16
• Last Update Submitted: 2020-11-16
• Study First Posted: 2020-11-20
• Last Update Posted: 2020-11-20
• Study Start: 2020-12-01
• Primary Completion: 2021-12-29
• Study Completion: 2022-01-29

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 25

Inclusion Criteria

• All the patients at any age up to 18 years with any type of MPS confirmed by the enzymatic assay

Exclusion Criteria

• any patient other than MPS

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Rate of Cardiac affection in patients with MPS	on enrollment	cardiac affection in MPS patients