SNPMiner Trials by Shray Alag

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Report for Clinical Trial NCT02746341

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)

Evaluate the clinical progression in patients with MPS IIIA who are untreated with any investigational product and to obtain standardized assessments: neurocognitive, behavioral, sleep-wake habits and effect of MPS IIIA on the quality of life of patients and their families.

NCT02746341 Mucopolysaccharidosis IIIA

Primary Outcomes

Measure: The change from baseline in cognitive function using the Bayley scales of infant and toddler development third edition

Time: Baseline, and every 6 months, for up to 24 months

Secondary Outcomes

Measure: Change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior scale

Time: Baseline and every 6 months up to 24 months

Measure: Sleep disturbances measured by Actigraphy

Time: Baseline and every 3 months up to 24 months

Measure: Patient Quality of Life Questionnaires

Time: Baseline and every 6 months up to 24 months

Measure: Change from baseline in total cortical grey matter volume

Time: Baseline, 12 months, 24 months

Time Perspective: Prospective


There is one SNP


1 S298P

- Homozygous or compound heterozygous for the S298P mutation or the investigator and/or trial steering committee considers the patient not to have the classical severe form of MPS IIIA. --- S298P ---

HPO Nodes