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

September 2, 2014 updated by: Madhuri Hegde, Emory University

Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)

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.

Study Overview

Status

Terminated

Conditions

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 Type

Observational

Enrollment (Actual)

3

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Georgia
      • Decatur, Georgia, United States, 30033
        • Emory University, Dept of Human Genetics

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

Inclusion Criteria:

  • Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria:

  • Patients receiving enzyme replacement therapy.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Mucopolysaccharidosis IVA
Patients with the condition.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Every 2 months over the course of a year.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
One urine over the course of a year or 6M

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Emory University

Collaborators

BioMarin Pharmaceutical

Investigators

  • Principal Investigator: Madhuri Hegde, PhD, FACMG, Emory University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2012

Primary Completion (Actual)

February 1, 2013

Study Completion (Actual)

February 1, 2013

Study Registration Dates

First Submitted

November 21, 2012

First Submitted That Met QC Criteria

November 26, 2012

First Posted (Estimate)

November 27, 2012

Study Record Updates

Last Update Posted (Estimate)

September 4, 2014

Last Update Submitted That Met QC Criteria

September 2, 2014

Last Verified

September 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB00058450

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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