Safety and Tolerability of Low Motoneuron Stimulation Via Transcranial Magnetic Stimulation in Spinal Muscular Atrophy

NCT06977269 | Recruiting

• 1 other identifier: CSMA-INPN-2
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

spinal muscular atrophy; Survival Motor Neuron protein (SMN); Neurofilament (NF); transcranial magnetic stimulation (TMS)

Outcome Measures

Primary Outcomes (4)

• Change from Baseline in the Motor Function Measure Scale

  Motor Function Measure (MFM) scale measurement before and after TMS sessions

  The first assessment will be conducted before the initial TMS session, and the second will be performed one to two days after the final TMS session.

• Change from Baseline of the Revised Upper Limb Module

  Revised Upper Limb Module (RULM) scale measurement before and after TMS sessions

  The first assessment will be conducted before the initial TMS session, and the second will be performed one to two days after the final TMS session.

• Change from Baseline of the Hammersmith Functional Motor Scale - Expanded

  Hammersmith Functional Motor Scale - Expanded (HFMSE) measurement before and after TMS sessions

  The first assessment will be conducted before the initial TMS session, and the second will be performed one to two days after the final TMS session.

• Change from Baseline in the 6-Minute Walk Test

  6-Minute Walk Test (6MWT) measurement before and after TMS sessions

  The first assessment will be conducted before the initial TMS session, and the second will be performed one to two days after the final TMS session.

Study Arms (1)

TMS arm

EXPERIMENTAL

Stimulation (HF-rTMS) of the primary motor cortex, M1 area of the limbs, at a frequency above 5 Hz and an intensity of 90-100% of the resting motor threshold (RMT), over 10 sessions, up to 2400 stimuli per session.

Device: High-frequency repetitive transcranial magnetic stimulation; Diagnostic Test: lumbar puncture

Interventions

High-frequency repetitive transcranial magnetic stimulation DEVICE

High-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).

Also known as: HF-rTMS

TMS arm

lumbar puncture DIAGNOSTIC_TEST

Cerebrospinal fluid sampling to measure SMN protein and neurofilament concentrations before and after the TMS intervention.

TMS arm

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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"

You may not qualify if:

• 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.

Sponsors & Collaborators

• Charitable Foundation Children with Spinal Muscular Atrophy: lead
• P.V. Voloshyn Institute of Neurology, Psychiatry and Narcology of the National Academy of Medical Sciences of Ukraine: collaborator

Study Sites (1)

P.V. Voloshyn Institute of Neurology, Psychiatry and Narcology of the National Academy of Medical Sciences of Ukraine

Kharkiv, Kharkivs’ka Oblast’, 61068, Ukraine

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

Spinal Puncture

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Intervention Hierarchy (Ancestors)

Biopsy; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Olena V Pisotska, MD, PhD

  P.V. Voloshyn Institute of Neurology, Psychiatry and Narcology of the National Academy of Medical Sciences of Ukraine

  PRINCIPAL INVESTIGATOR

• Andriy V Shatillo, MD, PhD

  P.V. Voloshyn Institute of Neurology, Psychiatry and Narcology of the National Academy of Medical Sciences of Ukraine

  STUDY CHAIR

Central Study Contacts

Vitaliy M Matyushenko

CONTACT

380503640673; csma.ua@gmail.com

Andriy V Shatillo, MD, PhD

CONTACT

380978111884; shatil@ukr.net

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 9, 2025
• First Posted: May 18, 2025
• Study Start: May 19, 2025
• Primary Completion: December 1, 2025
• Study Completion: January 1, 2026
• Last Updated: June 18, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR

Locations

UA (1)