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

Mucopolysaccharidosis Type IVA Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01733615
• Other study ID #: IRB00058450
• Status: Terminated
• Phase: N/A
• First received: November 21, 2012
• Last updated: September 2, 2014
• Start date: June 2012
• Est. completion date: February 2013

Study information

• Verified date: September 2014
• Source: Emory University
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 3
• Est. completion date: February 2013
• Est. primary completion date: February 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria:

• Patients receiving enzyme replacement therapy.

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Disease Progression
• Mucopolysaccharidoses
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis Type IVA

Locations

Country	Name	City	State
United States	Emory University, Dept of Human Genetics	Decatur	Georgia

Sponsors (2)

Lead Sponsor	Collaborator
Emory University	BioMarin Pharmaceutical

Country where clinical trial is conducted

United States, 

References & Publications (2)

Tiede S, Storch S, Lübke 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. Epub 2005 Oct 2. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.	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.	No
Secondary	Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.	The variability of oligosaccharides among different patients with MPSIVa will be evaluated.	One urine over the course of a year or 6M	No