Clinical trial NCT01733615: Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
Official title: Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Mucopolysaccharidosis Type IVA
Keywords: Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis Type IV
MPS Type IVA
MPS Type IV
Morquio Syndrome
Morquio Syndrome Type A
Urine biomarkers
Lead sponsor: Emory University
Sponsor class: OTHER
Collaborators: name: BioMarin Pharmaceutical
First posted: 2012-11-27
Enrollment: 3
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

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 criteria: Inclusion Criteria:

* Diagnosis of Mucopolysaccharidosis IVA

Exclusion Criteria:

* Patients receiving enzyme replacement therapy.

Primary outcomes:
measure: Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.
timeFrame: Every 2 months over the course of a year.
Secondary outcomes:
measure: Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.
timeFrame: One urine over the course of a year or 6M
Other outcomes:
Locations:
city: Decatur
country: United States
facility: Emory University, Dept of Human Genetics
state: Georgia
Study officials:
affiliation: Emory University
name: Madhuri Hegde, PhD, FACMG
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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. doi: 10.1111/j.1365-2990.2005.00675.x.