The scores in the tests were partially correlated with each other, and with clinical measures such as vital capacity, Motor Function Measure, functional hand scale and Brooke score.
Altogether, eight repeated measures with three-dimensional gait analysis and five clinical measurements using the gross motor function measure (GMFM) were performed.
Furthermore, a caregiver-reported COA would be complementary to other clinician-reported, performance-based outcome measures that may be used in clinical trials, such as the functional mobility scale (FMS), gross motor function measure (GMFM-88) and gross motor function classification in MLD (GMFC-MLD) [13, 14, 15].
Primary outcomes in this study were gross motor function (measured with the Gross Motor Function Measure and functional muscle strength tests) and walking ability (measured with the 10-meter, the 1-minute and the timed stair test).
Existing measures, such as Motor Function Measure, Tapping, and the Brooke Upper Extremity Functional Rating Scale were also performed.
Since therapeutic approaches to MLD are being explored, we evaluated a wide range of potential markers of disease severity including biochemical and molecular analyses (ASA activity, genotype, ASA mRNA levels, and residual ASA CRIM), measurements of motor function (GMFM-88, gross motor function measure-88), brain MRI and MR spectroscopy, neurophysiological assessments and sural nerve biopsy.
Exploratory outcomes measure, such as the motor function measure scale, were also applied.
The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy.
patients, as assessed by the change from baseline in the total score of the motor function measure (MFM) at 12 months.
