Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

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).

Study Overview

• Status: Recruiting
• Conditions: Ophthalmic Manifestations

• Study Type: Observational
• Enrollment (Anticipated): 28

Contacts and Locations

• Study Contact: Name: Shrouk Shaban Bakr, Resident doctor; Phone Number: 01069759819; Email: sshrouk617@gmail.com

Study Locations

• Egypt
  • Assiut, Egypt, 71717
    • Recruiting
    • Assiut University
    • Contact: Shrouk Shaban Bakr, Resident doctor; Phone Number: 0106 975 9819; Email: sshrouk617@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All patients at any age up to 18 years with any type of MPS

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
early detection and management of ophthalmic manifestations in patients with MPS	1 week

Collaborators and Investigators

• Sponsor: Shrouk Shaban Bakr

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): April 1, 2021
• Primary Completion (ANTICIPATED): April 1, 2023
• Study Completion (ANTICIPATED): April 1, 2023

Study Registration Dates

• First Submitted: February 22, 2021
• First Submitted That Met QC Criteria: February 22, 2021
• First Posted (ACTUAL): February 25, 2021

Study Record Updates

• Last Update Posted (ACTUAL): February 25, 2021
• Last Update Submitted That Met QC Criteria: February 22, 2021
• Last Verified: February 1, 2021

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: mucopolysaccharidosis

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

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