Spinal Cord Stimulation in Spinal Muscular Atrophy

NCT05430113 | Completed Results DMC FDA Device

• 1 other identifier: STUDY21080158
• 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 3 or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 3 or 4 SMA aged 16 or older that show quantifiable motor deficits of the legs but are able to stand independently. The investigators will then implant the subjects with percutaneous, bilateral, linear spinal leads near the lumbar 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 Type 3; Spinal Muscular Atrophy Type 4

Keywords

Spinal Muscular Atrophy; Spinal Cord Stimulation

Outcome Measures

Primary Outcomes (2)

• Muscle Weakness

  Isometric torque: measure the isometric torque produced by the subject at the hip during hip-flexion. Comparison of SCS-on with SCS-off performance. Success Criteria: ≥20% increased torque production over SCS-off baseline as measured during single-joint isometric torque.

  29 days

• Number of Participants With Adverse Events

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

  29 days

Secondary Outcomes (14)

• Motor Function ROM

  29 days

• Muscle Weakness 2

  29 days

• Motor Function: 6-Minute Walk Test

  29 days

• Motor Function: Fatigue

  29 days

• Motor Function RHS

  29 days

Study Arms (2)

Spinal Cord Stimulation

EXPERIMENTAL

All patients will receive FDA-approved percutaneous spinal cord stimulation leads implanted in the epidural (T12-L2 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)

Control Arm

NO INTERVENTION

Healthy volunteers may be enrolled for comparison data for those who have received the spinal cord leads.

Interventions

Spinal Cord Stimulator (octopolar Medtronic Vectris Leads) DEVICE

2-4 leads FDA-approved for treatment of symptoms of refractory pain

Spinal Cord Stimulation

Eligibility Criteria

• Age: 16 Years - 64 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Subject or subject's parent or legal guardian (for minor subjects) has provided written informed consent and Health Insurance Portability and Accountability Act (HIPAA) authorization, where applicable, prior to any study-related procedures. Minor subjects will be asked to give written assent according to local requirements.
• 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 having Type 3 or Type 4 SMA based on the following criteria
• Disease manifested after 18 months of age
• Disease manifested after ambulation was acquired
• Subject is ≥16 years of age and \< 65 years of age
• Subject is able to stand independently for ≥3 seconds
• RHS score lower or equal to 65
• 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

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
• 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
• 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

Sponsors & Collaborators

• Marco Capogrosso: lead
• Roche-Genentech: collaborator

Study Sites (1)

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

Related Publications (1)

• Prat-Ortega G, Ensel S, Donadio S, Borda L, Boos A, Yadav P, Verma N, Ho J, Carranza E, Frazier-Kim S, Fields DP, Fisher LE, Weber DJ, Balzer J, Duong T, Weinstein SD, Eliasson MJL, Montes J, Chen KS, Clemens PR, Gerszten P, Mentis GZ, Pirondini E, Friedlander RM, Capogrosso M. First-in-human study of epidural spinal cord stimulation in individuals with spinal muscular atrophy. Nat Med. 2025 Apr;31(4):1246-1256. doi: 10.1038/s41591-024-03484-8. Epub 2025 Feb 5.

  PMID: 39910271 DERIVED

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

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

Results Point of Contact

• Title: Marco Capogrosso - PI
• Organization: University of Pittsburgh

mcapo@pitt.edu

+14123702435

Study Officials

• Marco Capogrosso

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• 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: April 12, 2022
• First Posted: June 24, 2022
• Study Start: April 5, 2022
• Primary Completion: January 22, 2024
• Study Completion: January 13, 2025
• Last Updated: March 16, 2026
• Results First Posted: March 16, 2026

Record last verified: 2026-01

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)