Proximal spinal muscular atrophy (SMA) is characterized by weakness of predominantly axial and proximal muscle groups and is caused by homozygous deletion of the survival motor neuron 1 (SMN1)-gene. There are 4 SMA types (type 1-4), with a descending order of severity. Age at onset and achieved motor milestones are the characteristics to define severity. Treatment of SMA is exclusively supportive. MedDRA version: 17.1 Level: LLT Classification co
Conditions
Interventions
Trade Name: pyridostigmine bromide
Product Name: Mestinon
Product Code: RVG 03820
Pharmaceutical Form: Tablet
Pharmaceutical form of the
Sponsors
Universtiy Medical Center Utrecht
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with SMA will be included following the predefined criteria: 1) a clinical diagnosis of SMA type 2, 3a, 3b or 4 and a genetically confirmed homozygous SMN1 deletion 2) ability to complete visits during trial period; 3) given oral and written informed consent when =18 years old; 4) given informed consent by the parents or legal representative in case of patients aged =65 years) yes F.1.3.1 Number of subjects for this age range 5
Exclusion criteria
Exclusion criteria: Exclusion criteria for patients are 1) known concomitant disorders of the NMJ (Lambert Eaton myasthenic syndrome, myasthenia gravis); 2) use of drugs that may alter NMJ function; 3) SMA type 1; 4) apprehension against participation in EMG; 5) inability to meet study visits; 6) mechanical gastro-intestinal, urinary or biliary obstruction; 6) clinical significant alterations of laboratory tests (electrolytes, liver function, kidney function, thyroid function or blood dysplasia) drawn within 14 days prior to start of study entry; 7) electrocardiofysiology abnormalities known as a contraindication for pyridostigmine use; 8) pregnancy 9) allergy to bromides 10) bronchial astma
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The main objective of this placebo-controlled cross-over trial in adult patients with SMA type 2, 3 and 4 is to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA. ;Secondary Objective: Secondary outcome measures are the effect of pyridostigmine on neurofysiologic parameters and subjective scales;Primary end point(s): Change in Nine Hole Peg test and Motor Function Measure;Timepoint(s) of evaluation of this end point: Patients will be screened. Clinical evaluation in patients will take place 2 times in de treatmentperiod of 8 weeks; at te start and at the end. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Secondary outcome measures are scores on Vigori Measurement, scales on daily activities and presence of decrement upon repetitive nerve stimulation, quality of and activity in life scores, and adverse events.;Timepoint(s) of evaluation of this end point: Clinical evaluation in patients will take place 2 times in de treatmentperiod of 8 weeks; at te start and at the end. | — |
Countries
Netherlands
Contacts
Public ContactMETC
UMC Utrecht
Outcome results
None listed