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

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ClinicalTrials.gov Identifier: NCT01733615
Recruitment Status : Terminated (Original PI relocated to another institution)
First Posted : November 27, 2012
Last Update Posted : September 4, 2014
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Madhuri Hegde, Emory University

Study Description
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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.

Condition or disease
Mucopolysaccharidosis Type IVA

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 Design
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Study Type : Observational
Actual Enrollment : 3 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)
Study Start Date : June 2012
Actual Primary Completion Date : February 2013
Actual Study Completion Date : February 2013

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Groups and Cohorts
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Group/Cohort
Mucopolysaccharidosis IVA
Patients with the condition.


Outcome Measures
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Primary Outcome Measures :
  1. 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 :
  1. 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

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
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.
Criteria

Inclusion Criteria:

  • Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria:

  • Patients receiving enzyme replacement therapy.
Contacts and Locations
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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): NCT01733615


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

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Responsible Party: Madhuri Hegde, Associate Professor, Emory University
ClinicalTrials.gov Identifier: NCT01733615    
Other Study ID Numbers: IRB00058450
First Posted: November 27, 2012    Key Record Dates
Last Update Posted: September 4, 2014
Last Verified: September 2014
Keywords provided by Madhuri Hegde, Emory University:
Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis Type IV
MPS Type IVA
MPS Type IV
 Morquio Syndrome
Morquio Syndrome Type A
Urine biomarkers
Additional relevant MeSH terms:
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Mucopolysaccharidoses
Mucopolysaccharidosis IV
Disease Progression
Disease Attributes
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
 Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases