Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
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.
Mucopolysaccharidosis Type IVA
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)|
- Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA. [ Time Frame: Every 2 months over the course of a year. ] [ Designated as safety issue: No ]The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.
- Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA. [ Time Frame: One urine over the course of a year or 6M ] [ Designated as safety issue: No ]The variability of oligosaccharides among different patients with MPSIVa will be evaluated.
Biospecimen Retention: Samples Without DNA
|Study Start Date:||June 2012|
|Study Completion Date:||February 2013|
|Primary Completion Date:||February 2013 (Final data collection date for primary outcome measure)|
Patients with the condition.
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01733615
|United States, Georgia|
|Emory University, Dept of Human Genetics|
|Decatur, Georgia, United States, 30033|
|Principal Investigator:||Madhuri Hegde, PhD, FACMG||Emory University|