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

Terminated

• Conditions: Mucopolysaccharidosis Type IVA

• Registration Number: NCT01733615
• Lead Sponsor: Emory University

Brief Summary

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

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.

Study Timeline

• Study Start: 2012-06
• Study First Submitted: 2012-11-21
• Study First Submitted QC: 2012-11-26
• Study First Posted: 2012-11-27
• Primary Completion: 2013-02
• Study Completion: 2013-02
• Status Verified: 2014-09
• Last Update Submitted: 2014-09-02
• Last Update Posted: 2014-09-04

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 3

Inclusion Criteria

• Diagnosis of Mucopolysaccharidosis IVA

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Exclusion Criteria

• Patients receiving enzyme replacement therapy.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Emory University, Dept of Human Genetics; 🇺🇸 Decatur, Georgia, United States