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• W2891085144 abstract "Spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron 1 gene. Clinically, SMA manifests in various ranges of severity including progressive muscle weakness and loss of motor function. SMA types are characterized based on clinical severity. Several therapeutic strategies are currently under clinical investigation and the first drug was approved in 2016. Given the variable clinical phenotype of SMA, it is essential to determine the best outcome measures and identify prognostic factors to inform clinical trial design. We set up a prospective multicenter study to characterize the disease course of patients with type 2 and type 3 SMA by using a wide range of standardized evaluations. 81 patients aged 2 to 30 years were enrolled and completed the baseline assessments at 9 sites in France, Germany and Belgium between May 2015 and May 2016. 19 patients are non-sitters SMA type 2, 34 patients are sitters type 2, 9 are non-ambulant type 3 and 19 are ambulant type 3. Cross-sectional analysis established that Motor Function Measure (MFM) scores distribution well discriminated SMA types and sitters/ambulant status. Remarkably, most studied outcome measures (pulmonary function and strength tests, compound muscle action potentials, workspace volume, quality of life scales) differentiated the 4 groups and a good correlation was observed with the MFM score. This suggested the strong relationship between studied outcomes, phenotypes and motor function. The objective of the longitudinal data analysis is to evaluate outcome measures changes over time, possible differences of progression between the 4 groups and effect of different variables such as age on SMA progression. The preliminary results on the first 12-months of follow-up showed that the change in the different outcome was not significant on a 1-year period. This confirmed the previously described slow evolution of motor function in patients with SMA type 2 and 3. We describe here the changes over 24 months for 35 patients. The objective of this analysis is to evaluate the variations of the studied outcomes and biomarkers on a longer period, as well as their sensitivity to disease progression. Generated data will help to characterize the spectrum of SMA and to identify clinically meaningful and relevant assessments for future clinical trials, or for reimbursed drug post marketing evaluation" @default.
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• W2891085144 date "2018-10-01" @default.
• W2891085144 modified "2023-10-18" @default.
• W2891085144 title "SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES" @default.
• W2891085144 doi "https://doi.org/10.1016/j.nmd.2018.06.105" @default.
• W2891085144 hasPublicationYear "2018" @default.
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