Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

Ophthalmic Manifestations Clinical Trial

Official title:

Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04770415
• Other study ID #: mucopolysaccharidosis
• Status: Recruiting
• Start date: April 1, 2021
• Est. completion date: April 1, 2023

Study information

• Verified date: February 2021
• Source: Assiut University
• Contact: Shrouk Shaban Bakr, Resident doctor
• Phone: 01069759819
• Email: sshrouk617[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 28
• Est. completion date: April 1, 2023
• Est. primary completion date: April 1, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

Inclusion Criteria:

• All 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

Related Conditions & MeSH terms

• Mucopolysaccharidoses
• Ophthalmic Manifestations

Locations

Country	Name	City	State
Egypt	Assiut University	Assiut

Sponsors (1)

Lead Sponsor	Collaborator
Shrouk Shaban Bakr

Country where clinical trial is conducted

Egypt, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	early detection and management of ophthalmic manifestations in patients with MPS		1 week