New study tracks rare brain disease in children to pave way for future treatments

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: Confirmed diagnosis of Sanfilippo syndrome type C disease by all of the following: * Deficiency in heparan-alpha-glucosaminide N-acetyltransferase enzyme activity * Has presented with signs/symptoms consistent with Sanfilippo syndrome type C, or, for individuals who have not presented with signs/symptoms of disease (eg, siblings of known patients), the determination of eligibility will be at the discretion of the Sponsor in conjunction with the site Investigator * Genomic DNA analysis demonstrating homozygous or compound heterozygous, pathogenic and/or potentially pathogenic variants in the HGSNAT gene * Accumulated GAG HS in urine * Written informed consent from parent or legal guardian and assent from patient, if required * Parent/legal guardian willing to accompany the patient to all study visits * Ability to comply with protocol requirements, in the opinion of the Investigator * Negative urine pregnancy test at screening (nonsterile females of childbearing potential only). Functional abilities: * Able to take food or liquid by mouth, able to walk with or without assistance. * Has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year. Exclusion Criteria: Patients who meet any of the following criteria will not be eligible to participate in the study: * Have received an investigational drug within 30 days prior to the Baseline Visit * Concomitant illness or medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with protocol requirements, the patient's well-being or safety, or the interpretability of the patient's clinical data * The presence of significant non-MPS IIIC-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study