Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3

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.

Inclusion criteria

• Spinal muscular atrophy type 3, genetically confirmed

• Age higher than 6 years old
• Ambulatory patient
• Informed consent signed
• More than 100 meters of walking at 6-minute walk test at screening
• Value at screening and baseline in a range of 20% of the highest value at 6-minute walk test

Exclusion criteria

• Patient who had surgical intervention or suffer from a recent traumatism (less than 6 months)

• Associated pathology such as endocrinopathy, infectious disease, allergy, myopathy, chronic or acute inflammatory pathology, during 3 weeks preceding the inclusion.
• Other therapeutics than food supplements or those frequently prescribed in spinal muscular atrophy or its complications
• Non tolerance of electromyography
• Limited collaboration due to trouble in information comprehension
• Pathology inducing contra-indication for pyridostigmine treatment (allergy at molecule, asthma, Parkinson disease, mechanic obstruction of urinary or digestive tracts)