There is a general physiological rule that any organ or system needs some minimal amount of activity to prevent its atrophy or degeneration. Although the relevance of that rule to exercises in neuromuscular patients and for SMA in particular is not definitely proven, clinical observations seem to support this assumption. Also there are several experimental studies which provide additional support for utility of exercise for SMA.
However, making regular exercises may be very challenging with SMA not only due to physical limitations, but due to psychological either.
While being considered as safe and well tolerated intervention, TMS is able to mimic effects of real physical exercises, at least at the level of low motoneuron, it also provides several advantages. For example, possibility to exercise non-collaborative infants, minimization of psychological motivation impact in adults and/or ability to involve very weak muscle groups.
Subject has a diagnosis of 5q-autosomal recessive SMA confirmed by DNA test.
Informed consent.
A minimum score of 1 for Entry Item "A" of the Revised Upper Limb Module (RULM) scale for SMA: "Can use hands to hold pencil or pick up a coin/token or drive a powered chair, use phone key pad"
Subject has severe joint contractures that would affect ability to perform study measures, determined by the study physician.
Subject has a deconditioned respiratory system, per the discretion of the physician investigator.
Subject has behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator.
Single group
High-frequency repetitive transcranial magnetic stimulation
DeviceHigh-frequency repetitive transcranial magnetic stimulation targeting the primary motor cortex (M1) of the limbs, delivered at a frequency above 5 Hz and an intensity of 90-100% of the resting motor threshold, across 10 sessions with up to 2400 stimuli per session, is a standard intervention used in various neurological disorders. However, its effects have not been studied in patients with spinal muscular atrophy (SMA).
lumbar puncture
Diagnostic testCerebrospinal fluid sampling to measure SMN protein and neurofilament concentrations before and after the TMS intervention.
Change from Baseline in the Motor Function Measure Scale
Motor Function Measure (MFM) scale measurement before and after TMS sessions
Change from Baseline of the Revised Upper Limb Module
Revised Upper Limb Module (RULM) scale measurement before and after TMS sessions
Change from Baseline of the Hammersmith Functional Motor Scale - Expanded
Hammersmith Functional Motor Scale - Expanded (HFMSE) measurement before and after TMS sessions
Change from Baseline in the 6-Minute Walk Test
6-Minute Walk Test (6MWT) measurement before and after TMS sessions
Click on the lead sponsor to view all of their trials.
Charitable Foundation Children with Spinal Muscular Atrophy
Lead sponsor
P.V. Voloshyn Institute of Neurology, Psychiatry and Narcology of the National Academy of Medical Sciences of Ukraine
Collaborator
