The purpose of this study is to evaluate safety and efficacy of anti-cholinesterase therapy on the motor function in SMA type 3 patients with impaired neuromuscular junction (NMJ).
Spinal muscular atrophy (SMA) is the second neuromuscular disease meet in children. SMA is a genetically transmitted disease inducing muscular weakness predominating on shoulders and hips. Currently, there is no effective therapy to slow the progression of the disease. SMA is due to a neuron motor attempt of the spinal cord and recently it has been demonstrated a neuromuscular junction (NMJ) involvement, according to recent studies. EMOTAS study aim to understand if NMJ abnormalities could have an impact on motor performance and fatigue in SMA type 3 ambulatory patients by electromyogram and to improve by non-invasive therapy quality of life of patients.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
4
Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
Liège, Belgium
Change from Baseline in the distance walked at 6-minute walk test at 6 months
Time frame: 6 months
Change from baseline of decrement at 6 months
Time frame: 6 months
Change from baseline of MFM-D1
Comparison of treated and control group values will be made
Time frame: 6 months
Change from baseline of Moviplate values at 6 months
Comparison between treated and control group value will be made
Time frame: 6 months
Change from baseline of the ratio at 6 minutes walk test at 6 months
It's the ratio between the number of meters during the last minute of the 6-minute walk test and the first minute of the 6-minute walk test.
Time frame: 6 months
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