Spinal Muscular Atrophy Type 3
Conditions
Keywords
spinal muscular atrophy type 3, electromyography, fatigability, decrement
Brief summary
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).
Detailed description
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.
Interventions
Sponsors
Centre Hospitalier Régional de la Citadelle
Study design
Allocation
NON_RANDOMIZED
Intervention model
FACTORIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change from Baseline in the distance walked at 6-minute walk test at 6 months | 6 months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline of decrement at 6 months | 6 months | — |
| Change from baseline of MFM-D1 | 6 months | Comparison of treated and control group values will be made |
| Change from baseline of Moviplate values at 6 months | 6 months | Comparison between treated and control group value will be made |
| Change from baseline of the ratio at 6 minutes walk test at 6 months | 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. |
Countries
Belgium
Outcome results
None listed