CompletedNot Applicable

Natural History Studies of Mucopolysaccharidosis III

United States25 participantsStarted 2014-02

Plain-language summary

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.

Who can participate

Age range2 Years

SexALL

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Inclusion criteria

✓. 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.

Exclusion criteria

✕. 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

What they're measuring

Cognitive function

Timeframe: up to 12 months

Trial details

NCT IDNCT02037880

SponsorNationwide Children's Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2015-11

View on ClinicalTrials.gov More Mucopolysaccharidosis Type IIIA trials