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