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NCT04770415

Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

Status unknown Last updated 25 February 2021
What this trial tests

trial in Ophthalmic Manifestations in 28 participants. Status unknown.

Timeline
1 April 2021
Primary endpoint
1 April 2023
1 April 2023

Quick facts

Lead sponsorShrouk Shaban Bakr
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment28
Start date1 April 2021
Primary completion1 April 2023
Estimated completion1 April 2023
Sites1 location across Egypt

Conditions studied

Sponsor

Shrouk Shaban Bakr

Who can join

Under 18, any sex, with Ophthalmic Manifestations. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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).

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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