SNPMiner Trials (Home Page)
Report for Clinical Trial NCT02746341
Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene
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
Cohort
There is one SNP
SNPs
- 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 ---