Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA

Study Overview
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Brief Summary
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The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body. Researchers want to look at how these chemicals change with time and how they change between different patients with MPSIVA. These unusual chemicals were recently discovered in the urine from patients with MPSIVA. The investigators would like to study these chemicals before a specific enzyme replacement therapy is used. If the investigators understand how these chemicals change, the investigators may be able to use them to monitor this condition in the near future as well as help doctors know whether certain therapies work well in their patients.

Detailed Description
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This is not a clinical trial and there is no outcome measurement. The biomarkers in this study are oligosaccharides that secreted in the urine from patients with MPSIVa. In this study, we will try to define the variability of these oligosaccharides in the same patient at different time points, including different month of a year and different collections during the day as well as variations of these oligosaccharide in different affected patients.

Official Title
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Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)

Conditions
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Mucopolysaccharidosis Type IVA

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of Mucopolysaccharidosis IVA Exclusion Criteria: Patients receiving enzyme replacement therapy.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mucopolysaccharidosis IVA<br>Patients with the condition. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA. | The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated. | Every 2 months over the course of a year. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA. | The variability of oligosaccharides among different patients with MPSIVa will be evaluated. | One urine over the course of a year or 6M | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Mucopolysaccharidosis Type IVA, Mucopolysaccharidosis Type IV, MPS Type IVA, MPS Type IV, Morquio Syndrome, Morquio Syndrome Type A, Urine biomarkers