Natural History Studies of Mucopolysaccharidosis III

Launched by NATIONWIDE CHILDREN'S HOSPITAL · Jan 15, 2014

Keywords

ClinConnect Summary

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.

In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:

1. Individual rates of decline in motor and cognitive fun...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Age 2 years old or greater
• 2. Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
• • 1. No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
• • 2. Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
• • 3. Clinical history of or examination features of neurologic dysfunction.
• Exclusion Criteria:
• • 1. Inability to participate in the clinical evaluations
• • 2. Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
• • 3. Inability to be safely sedated in the opinion of the clinical anesthesiologist