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Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

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ClinicalTrials.gov Identifier: NCT04770415
Recruitment Status : Recruiting
First Posted : February 25, 2021
Last Update Posted : February 25, 2021
Sponsor:
Information provided by (Responsible Party):
Shrouk Shaban Bakr, Assiut University

Study Description
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Brief 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).

Condition or disease
Ophthalmic Manifestations

Study Design
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Study Type : Observational
Estimated Enrollment : 28 participants
Observational Model: Case-Crossover
Time Perspective: Prospective
Official Title: Ophthalmic Manifestations of Patients With Mucopolysaccharidosis
Estimated Study Start Date : April 1, 2021
Estimated Primary Completion Date : April 1, 2023
Estimated Study Completion Date : April 1, 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. early detection and management of ophthalmic manifestations in patients with MPS [ Time Frame: 1 week ]

Eligibility Criteria
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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients at any age up to 18 years with any type of MPS
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04770415


Contacts
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Contact: Shrouk Shaban Bakr, Resident doctor 01069759819 sshrouk617@gmail.com

Locations
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Egypt
Assiut University Recruiting
Assiut, Egypt, 71717
Contact: Shrouk Shaban Bakr, Resident doctor    0106 975 9819    sshrouk617@gmail.com   
Sponsors and Collaborators
Shrouk Shaban Bakr
More Information
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Responsible Party: Shrouk Shaban Bakr, Resident doctor, Assiut University
ClinicalTrials.gov Identifier: NCT04770415    
Other Study ID Numbers: mucopolysaccharidosis
First Posted: February 25, 2021    Key Record Dates
Last Update Posted: February 25, 2021
Last Verified: February 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
 Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases