Clinical trial NCT02227823: Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3
Official title: Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Spinal Muscular Atrophy Type 3
Keywords: spinal muscular atrophy type 3
electromyography
fatigability
decrement
Lead sponsor: Centre Hospitalier Régional de la Citadelle
Sponsor class: OTHER
First posted: 2014-08-28
Enrollment: 4
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: FACTORIAL
Primary purpose: TREATMENT

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.

Eligibility criteria: 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)

Primary outcomes:
measure: Change from Baseline in the distance walked at 6-minute walk test at 6 months
timeFrame: 6 months
Secondary outcomes:
measure: Change from baseline of decrement at 6 months
timeFrame: 6 months
measure: Change from baseline of MFM-D1
timeFrame: 6 months
measure: Change from baseline of Moviplate values at 6 months
timeFrame: 6 months
measure: Change from baseline of the ratio at 6 minutes walk test at 6 months
timeFrame: 6 months
Other outcomes:
Locations:
city: Liège
country: Belgium
facility: Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
Study officials:
affiliation: Centre de référence des maladies neuromusculaire de Liège
name: Stephanie Delstanche
role: PRINCIPAL_INVESTIGATOR
References: