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

This study has been terminated.
(Original PI relocated to another institution)
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Madhuri Hegde, Emory University Identifier:
First received: November 21, 2012
Last updated: September 2, 2014
Last verified: September 2014
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 Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)

Resource links provided by NLM:

Further study details as provided by Emory University:

Primary Outcome Measures:
  • 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. ]
    The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.

Secondary Outcome Measures:
  • 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 ]
    The variability of oligosaccharides among different patients with MPSIVa will be evaluated.

Biospecimen Retention:   Samples Without DNA
Frozen urine

Enrollment: 3
Study Start Date: June 2012
Study Completion Date: February 2013
Primary Completion Date: February 2013 (Final data collection date for primary outcome measure)
Mucopolysaccharidosis IVA
Patients with the condition.

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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Newly diagnosed or untreated Mucopolysaccharidosis IVA patients across the nation collected from national major genetic laboratories, national major genetic clinics, Includes the Emory Genetics Clinic, Mayo Clinic, UPMC, Children's Hospital of Philadelphia, and Nationwide Children's Center in Washington, DC.

Inclusion Criteria:

  • Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria:

  • Patients receiving enzyme replacement therapy.
  Contacts and Locations
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Please refer to this study by its identifier: NCT01733615

United States, Georgia
Emory University, Dept of Human Genetics
Decatur, Georgia, United States, 30033
Sponsors and Collaborators
Emory University
BioMarin Pharmaceutical
Principal Investigator: Madhuri Hegde, PhD, FACMG Emory University
  More Information

Responsible Party: Madhuri Hegde, Associate Professor, Emory University Identifier: NCT01733615     History of Changes
Other Study ID Numbers: IRB00058450
Study First Received: November 21, 2012
Last Updated: September 2, 2014

Keywords provided by Emory University:
Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis Type IV
Morquio Syndrome
Morquio Syndrome Type A
Urine biomarkers

Additional relevant MeSH terms:
Disease Progression
Mucopolysaccharidosis IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases
Disease Attributes
Pathologic Processes processed this record on May 24, 2017