A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)

Phase

N/A

Condition

N/A

Treatment

No intervention

Clinical Study ID

NCT05523206

SAN-08252

Ages 4-13
All Genders

Study Summary

This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. The study will have a screening process and 7 study visits, e.g. home visits, that will consist of serum collection and completion of a remote assessment of the Vineland Adaptive Behavior Scales 3rd Edition (Vineland-3)

MPS IIIA remains a devastating disease with a high unmet medical need. There is currently a limited number of available data to adequately characterize the progression of the disease. Analysis of blood biospecimens and adaptive behavior in this study will help researchers better understand the clinical progression of MPS IIIA. A better understanding of disease progression may assist in developing novel therapies for rare genetic disorders.

Eligibility Criteria

Inclusion

Inclusion Criteria:

Age of enrollment is as follows:

All participants must be between 4 months and < 14 years at time of consent
At least 10 participants (ie, approx. 50% of expected total population) must bebetween 4 months old and < 4 years old at the time of consent

The participant has a confirmed diagnosis of Mucopolysaccharidosis Type IIIA (MPSIIIA) (i.e., Sanfilippo syndrome) based on at least 2 out of the 3 followingcriteria:

Documented reduced N-sulphoglucosamine sulphohydrolase (SGSH) activity inplasma, white blood cells, and/or skin fibroblasts consistent with MPS IIIA (10% or less of the lower limit of the normal range based on the testinglaboratory)
Documented likely pathogenic variant of the SGSH gene
Documented elevated heparan sulfate levels in urine and/or blood Participantsand their families are willing to complete 7 blood draws and 7 Vineland-3collections

Exclusion

Exclusion Criteria:

Known history of HIV, hepatitis, or other infectious diseases
Taken an investigational product in the last 30 days
Experienced excess blood loss, including blood donation, defined as 80 mL in thelast month or 160 mL in the previous two months
Undergone an MPS IIIA gene therapy at any time unless prior Sponsor or designee'sapproval has been received
Documented loss of activity of sulfatases other than N-sulphoglucosaminesulphohydrolase (SGSH), indicating multiple sulfatase deficiency
Known genetic or acquired disorder associated with developmental delay, seizures orother significant CNS dysfunction that would be expected to confound the clinical orbiomarker assessments

Study Design