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

Phase 2

Completed

• Conditions: Spinal Muscular Atrophy Type 3
• Interventions: Drug: Pyridostigmine Bromide

• Registration Number: NCT02227823
• Lead Sponsor: Centre Hospitalier Régional de la Citadelle

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.

Study Timeline

• Study Start: 2014-07
• Study First Submitted: 2014-08-20
• Study First Submitted QC: 2014-08-26
• Study First Posted: 2014-08-28
• Primary Completion: 2017-07
• Study Completion: 2017-07
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-09
• Last Update Posted: 2023-10-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 4

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)

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: FACTORIAL

Arm && Interventions

Group	Intervention	Description
significant decrement	Pyridostigmine Bromide	Patients with significant decrement at electromyogram will be treated by pyridostigmine bromide 60mg 3 times a day for patients older than 18 and 1.5mg/kg 3 times a day for children less than 40kg

Primary Outcome Measures

Name	Time	Method
Change from Baseline in the distance walked at 6-minute walk test at 6 months	6 months

Secondary Outcome Measures

Name	Time	Method
Change from baseline of decrement at 6 months	6 months
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.
Change from baseline of MFM-D1	6 months	Comparison of treated and control group values will be made

Trial Locations

Locations (1)

Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle; 🇧🇪 Liège, Belgium