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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Emory University
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Miao He, Emory University
ClinicalTrials.gov Identifier:
NCT01733615
First received: November 21, 2012
Last updated: December 17, 2013
Last verified: December 2013
  Purpose

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
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. ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    The variability of oligosaccharides among different patients with MPSIVa will be evaluated.


Biospecimen Retention:   Samples Without DNA

Frozen urine


Estimated Enrollment: 20
Study Start Date: June 2012
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

  Eligibility

Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01733615

Contacts
Contact: Elizabeth (Beth) E Woolley, MS 404-778-8616 elizabeth.e.woolley@emory.edu
Contact: Miao He, PhD 404-778-8509 miao.he@emory.edu

Locations
United States, Georgia
Emory University, Dept of Human Genetics Recruiting
Decatur, Georgia, United States, 30033
Contact: Elizabeth (Beth) E Woolley, MS    404-778-8616    elizabeth.e.woolley@emory.edu   
Contact: Miao He, PhD    404-778-8509    miao.he@emory.edu   
Sponsors and Collaborators
Emory University
BioMarin Pharmaceutical
Investigators
Principal Investigator: Miao He, PhD Emory University
  More Information

Publications:
Responsible Party: Miao He, Assistant Professor, Emory University
ClinicalTrials.gov Identifier: NCT01733615     History of Changes
Other Study ID Numbers: IRB00058450
Study First Received: November 21, 2012
Last Updated: December 17, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by 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:
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Disease Progression
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on July 20, 2014