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Report for Clinical Trial NCT02746341
Developed by Shray Alag, 2020.
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 ---
HPO Nodes