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

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

Study Overview

• Status: Unknown
• Conditions: Mucopolysaccharidoses

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 Type: Observational
• Enrollment (Anticipated): 25

Contacts and Locations

• Study Contact: Name: hager mohamed rageh, MBChB; Phone Number: 01065007569; Email: hagerdardiry@gmail.com
• Study Contact Backup: Name: Mohamed Mahrous Sayed El-Talawy, PhD; Phone Number: 01003486596; Email: ohamed.mohamed51@med.au.edu.eg

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

patients with mucopolysacchridosis

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
children with MPS

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rate of Cardiac affection in patients with MPS	cardiac affection in MPS patients	on enrollment

Collaborators and Investigators

• Sponsor: Assiut University

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): December 1, 2020
• Primary Completion (ANTICIPATED): December 29, 2021
• Study Completion (ANTICIPATED): January 29, 2022

Study Registration Dates

• First Submitted: November 16, 2020
• First Submitted That Met QC Criteria: November 16, 2020
• First Posted (ACTUAL): November 20, 2020

Study Record Updates

• Last Update Posted (ACTUAL): November 20, 2020
• Last Update Submitted That Met QC Criteria: November 16, 2020
• Last Verified: November 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mucopolysaccharidoses
• Other Study ID Numbers: cardiac affections in MPS

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No