Outcome
Type |
Measure |
Description |
Time frame |
Safety issue |
Other |
Bayley Scales of Infant and Toddler Development |
Bayley Scales of Infant and Toddler Development (Bayley-4) showing a score of 40 -160 with higher values showing more development. Exploratory Endpoint |
Every 6 months in Part B |
|
Primary |
National Institute of Health Toolbox Cognition Battery |
NIH Toolbox Cognition Battery is a multiple of tests to show Cognition and consists of tests of multiple constructs to yield individual ranking and demonstrate Cognitive Function Composite , Fluid Cognition Composite Sequence Memory, List Sorting, Pattern Comparison, and Crystallized Cognition Composite, Picture Vocabulary and Reading Recognition. This is standardized normal or 100 with a standard deviation of 10. Higher scores are better. |
Every 6 months in Part B |
|
Primary |
National Institute of Health Toolbox Motor Battery |
NIH Toolbox Motor Battery is a multiple of tests to determine motor skills and is a comprehensive set of neuro-behavioral measurements that quickly assess cognitive, emotional, sensory, and motor functions from the convenience of an iPad. This is standardized normal or 100 with a standard deviation of 10. Higher scores are better. |
Every 6 months in Part B |
|
Primary |
Vineland Adaptive Behaviour Scales |
Vineland Adaptive Behaviour Scales (Vineland-3) has a normal score of 100 and lower scores show developmental delay |
Every 6 months in Part B |
|
Primary |
Oral and Written Language Scales |
Oral and Written Language Scales |
Every 6 months in Part B |
|
Secondary |
Biomarker Measure |
This biomarker measure will be performed to assess the inhibition of galactitol |
Month 1- 3 in Part B |
|
Secondary |
Biomarker Analysis |
This biomarker analysis will be performed to assess the levels of galactose and its other metabolites |
Month 1 -3 in Part B |
|
Secondary |
Rate of Lens Opacity |
Onset and severity/progression of cataracts using the Lens Opacity System (LOCS) III, has a grading scale of 1-4, with 4 the most severe as assessed by the reviewer per standard criteria for anterior and posterior obstruction of the eye. |
Every 6 months in Part B |
|
Secondary |
Sexual maturation in female patients as indicated by Tanner Stage |
Sexual maturation in female patients as indicated by Tanner Stage 1- 4 which is the ranking of physical development in children, adolescents and adults. This defines physical measurements of development based on external primary and secondary sex characteristics, such as the size of the breasts, and development of pubic hair. This is assessed by physical exam with Stage 1 per-pubescent and Stage 4 post pubescent. |
Every 6 months in Part B |
|
Secondary |
Ovarian function in female patients determined by one hormonal test. |
Ovarian function in female patients is recorded by hormonal measures which can be one of the following;FSH (follicle stimulating hormone), estradiol and/or LH (luteinizing hormone) |
Every 6 months in Part B |
|
Secondary |
Spiral Drawing Test |
Spiral Drawing Test is a multiple of tests showing drawing skills |
Every 6 months in Part B |
|
Secondary |
Scale for Assessment & Rating of Ataxia |
Scale for Assessment & Rating of Ataxia (SARA) is 0-40, the higher the score the worse value |
Every 6 months in Part B |
|
Secondary |
Behavioral Assessment System for Children |
Behavioral Assessment System for Children (BASC-3) has a normal range of 40 -060 with the higher score showing more difficulty. |
Every 6 months in Part B |
|