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

NCT ID: NCT01733615

Last Updated: 2014-09-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

3 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-06-30

Study Completion Date

2013-02-28

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Mucopolysaccharidosis Type IVA

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Mucopolysaccharidosis IVA

Patients with the condition.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria

* Patients receiving enzyme replacement therapy.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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BioMarin Pharmaceutical

INDUSTRY

Sponsor Role collaborator

Emory University

OTHER

Sponsor Role lead

Responsible Party

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Madhuri Hegde

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Madhuri Hegde, PhD, FACMG

Role: PRINCIPAL_INVESTIGATOR

Emory University

Locations

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Emory University, Dept of Human Genetics

Decatur, Georgia, United States

Site Status

Countries

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United States

References

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Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2.

Reference Type BACKGROUND
PMID: 16200072 (View on PubMed)

Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H. Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease. Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44. doi: 10.1111/j.1365-2990.2005.00675.x.

Reference Type BACKGROUND
PMID: 16150124 (View on PubMed)

Other Identifiers

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IRB00058450

Identifier Type: -

Identifier Source: org_study_id

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