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

NCT ID: NCT02227823

Last Updated: 2023-10-11

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 4 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2014-07-31
• Study Completion Date: 2017-07-31

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.

Conditions

Spinal Muscular Atrophy Type 3

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: FACTORIAL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

significant decrement

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

Group Type: EXPERIMENTAL

Pyridostigmine Bromide

Intervention Type: DRUG

no decrement

Patient without significant decrement will not receive any treatment and will be the control group

Group Type: NO_INTERVENTION

No interventions assigned to this group

Interventions

Pyridostigmine Bromide

Intervention Type: DRUG

Other Intervention Names

Mestinon

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)

• Minimum Eligible Age: 6 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Régional de la Citadelle

OTHER

Sponsor Role: lead

Responsible Party

Dr. Stéphanie Delstanche

Neurologist

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Stephanie Delstanche

Role: PRINCIPAL_INVESTIGATOR

Centre de référence des maladies neuromusculaire de Liège

Locations

Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle

Liège, , Belgium

Countries

Belgium

Other Identifiers

1376

Identifier Type: -

Identifier Source: org_study_id