Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

study id #: NCT04770415

condition: Ophthalmic Manifestations

status: Recruiting

Mucopolysaccharidosis (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycan(1,2). They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler)(3) , MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II(4,5) (Hunter), MPS III (Sanfilippo)(6) , MPS IV (Morquio)(7,8), MPS VI (Maroteaux-Lamy)(9), MPS VII (Sly)(10,11) and MPS IX (Natowicz)(12). Mucopolysaccharidosis have a spectrum of systemic manifestations, including airway and respiratory compromise, skeletal deformities, intellectual and neurological impairment, cardiac abnormalities, gastrointestinal problems and ocular manifestations(13). Ocular manifestation are common in the mucopolysaccharidosis and may result in significant visual impairment(14). Corneal opacification of varying severity is frequently seen, as well as retinopathy, optic nerve swelling and atrophy, ocular hypertension, and glaucoma(14). New treatment modalities for the systemic manifestations of the mucopolysaccharidosis include bone marrow transplant and enzyme replacement therapy have resulted in an improved prognosis in many cases(15).

results: https://clinicaltrials.gov/ct2/show/results/NCT04770415

last updated: February 26, 2022

start date: April 1, 2021

estimated completion: April 1, 2023

last updated: February 25, 2021

size / enrollment: 28

primary outcomes:

• early detection and management of ophthalmic manifestations in patients with MPS
  
• 1 week
  

inclusion criteria:

exclusion criteria: Criteria:

Any patient other than MPS

sponsor: Shrouk Shaban Bakr

contacts: Shrouk Shaban Bakr, Resident Doctor, 01069759819, [email protected]

trial center locations: Egypt

• Egypt
  Assiut University
  Shrouk Shaban Bakr, Resident Doctor, 0106 975 9819, [email protected]