Natural History Studies of Mucopolysaccharidosis III

Completed

Conditions studied: Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB

In brief

The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.

Key facts

Study ID

NCT02037880

Run by

Nationwide Children's Hospital

People needed

25

Starts

2014-02-01

Expected to finish

2015-11-01

Last updated by the study team

2015-11-16

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Age 2 years old or greater
• Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
• No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
• Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
• Clinical history of or examination features of neurologic dysfunction.

You may not qualify if…

• Inability to participate in the clinical evaluations
• Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
• Inability to be safely sedated in the opinion of the clinical anesthesiologist

Where it is running

• Nationwide Children's Hospital — Columbus, Ohio, United States

Full record on ClinicalTrials.gov

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