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

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


Lead Sponsor: Assiut University

Source 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.

Overall Status Not yet recruiting
Start Date December 1, 2020
Completion Date January 29, 2022
Primary Completion Date December 29, 2021
Study Type Observational
Primary Outcome
Measure Time Frame
Rate of Cardiac affection in patients with MPS on enrollment
Enrollment 25

Sampling Method: Non-Probability Sample


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

Gender: All

Minimum Age: N/A

Maximum Age: 18 Years

Overall Contact

Last Name: hager mohamed rageh, MBChB

Phone: 01065007569

Email: [email protected]

Verification Date

November 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Assiut University

Investigator Full Name: Hager Rageh Dardiry

Investigator Title: researcher

Has Expanded Access No
Condition Browse
Arm Group

Label: children with MPS

Acronym MPS
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov