Clinical Trial Details
— Status: Not yet recruiting
Administrative data
| NCT number |
NCT04637646 |
| Other study ID # |
cardiac affections in MPS |
| Secondary ID |
|
| Status |
Not yet recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
December 1, 2020 |
| Est. completion date |
January 29, 2022 |
Study information
| Verified date |
November 2020 |
| Source |
Assiut University |
| Contact |
hager mohamed rageh, MBChB |
| Phone |
01065007569 |
| Email |
hagerdardiry[@]gmail.com |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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
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.
