Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb

NCT06300996 | Active Not Recruiting DMC FDA Device

• 1 other identifier: STUDY23110042
• Study Type: interventional
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical inputs. This pilot will test if SCS can show evidence to improve motor deficits in people with Type 2, 3, or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 2, 3, or 4 SMA aged 16 or older that show quantifiable motor deficits of the upper body. The investigators will then implant the subjects with percutaneous, linear spinal leads near the cervical spinal cord for a period of up to 29 days. Although these leads are not optimized for motor function but rather for their clinically approved indication of treating pain, the investigators believe they provide a safe technology enabling our team to perform scientific measurement necessary to evaluate potential for effects of SCS in motor paralysis with SMA. After the end of the study, the leads will be explanted.

Conditions

Spinal Muscular Atrophy; Spinal Muscular Atrophy Type 3; Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy 4; SMA

Keywords

Spinal Cord Stimulation

Outcome Measures

Primary Outcomes (2)

• Muscle Weakness Torque

  Isometric torque: measure the isometric torque produced by the subject at the elbow during flexion. The investigators will use the measurement of isometric torque to determine the changes in muscle strength for each participant with SCS on and with SCS off. This comparison will also include testing the non-affected arm to give the investigators a baseline for normal movement of the joint being tested. Success Criteria: ≥30% increased torque production over the SCS-off/non-affected baseline as measured during single-joint isometric torque.

  29 days

• Number and Severity of Adverse Events

  Success Criteria: no serious adverse events related to the stimulation or intolerable. adverse events reported

  29 days

Secondary Outcomes (13)

• Muscle Weakness Muscle Activation

  29 days

• Motor Function ROM

  29 days

• Motor Function RULM

  29 days

• Motor Function Fatigue

  29 days

• Discomfort/Pain

  29 days

Study Arms (1)

Spinal Cord Stimulation

EXPERIMENTAL

All patients will receive FDA-approved percutaneous spinal cord stimulation leads implanted in the cervical epidural (C4-T1 vertebra) space. The leads will be connected to external stimulators (either FDA-approved or human-grade research stimulator with safety features) during research activities.

Device: Spinal Cord Stimulator (Octopolar Medtronic Vectris Leads)

Interventions

Spinal Cord Stimulator (Octopolar Medtronic Vectris Leads) DEVICE

Spinal cord stimulation is FDA approved for treatment of pain. We are proposing utilizing the same technology to help restore motor control in people who have declining function due to the progression of SMA. These are 2-4 leads that are FDA-approved.

Spinal Cord Stimulation

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• 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 determination of a genetic deletion in the SMN1 gene (5q12.2-q13.3).
• Subject is diagnosed as being non-ambulatory SMA based on the following criteria:
• a. Can't stand independently.
• Subject is ≥16 years of age and \< 65 years of age.
• Subject is able to sit independently.
• 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 (and subject's parent or legal guardian if subject is a minor) is willing and able to comply with scheduled visits and study procedures
• Participants must have started SMN inducing therapies (Spinraza or risdisplam) at least 6 months prior to enrollment. (They must have either gotten their first injection at at least 6 months prior, or they started daily intake of risdisplam at least 6 months prior to the study)
• Subject is ≥18 years of age and \< 65 years of age.
• Subject is able to stand independently for ≥3 seconds.
• Subject is willing and able to comply with scheduled visits and study procedures.

You may not qualify if:

• Subject has deformation of the spinal canal preventing lead implantation as judged by the study neurosurgeon
• Subject has size of spinal canal that is insufficient for lead implantation as judged by the study neurosurgeon
• Subject has moderate or severe joint contractures that would affect ability to perform study measures, determined by the study physician
• Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator
• Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety of anesthesia or the procedures, make it unlikely that intervention or follow-up will be correctly completed or impair the assessment of study results, in the opinion of the investigator
• Female subjects are pregnant or breastfeeding, as established by self-report.
• Subject has severe claustrophobia
• Subject is on anticoagulant, anti-spasticity or anti-seizure medication within 4 weeks of lead implantation or requires these medications during the treatment phase of the study
• Subject has medical implant that precludes magnetic resonance imaging
• Subject has a deconditioned respiratory system, per the discretion of the physician investigator.
• Subjects with renal insufficiency at the discretion of the physician investigator.
• Subjects requiring any form of sedation for MRI will be excluded.
• Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator would impact participation in the study.
• Participants who have any serious disease or disorder (e.g. cancer, severe cardiac or respiratory disease, neurological conditions other than stroke, etc.) or cognitive impairments that could affect their ability to participate in this study.
• Female subjects are pregnant or breastfeeding, as established by self-report.

Sponsors & Collaborators

• Marco Capogrosso: lead
• Roche-Genentech: collaborator

Study Sites (1)

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood; Spinal muscular atrophy 4

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Marco Capogrosso

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant Professor

Model Details: Single-arm, open-label study performed to quantify variables that are predictive of the efficacy of spinal cord stimulation to improve motor control.

Study Record Dates

• First Submitted: March 1, 2024
• First Posted: March 8, 2024
• Study Start: May 31, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2029
• Last Updated: August 26, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: Data will become available at the end of the trial upon publication of the first manuscript. Estimation is 2 years from enrollment of first participant.
• Access Criteria: Data must be directly requested to the PI and will be shared upon completion of necessary data sharing agreement to protect confidential patient information.

Locations

US (1)