Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)

NCT04139343 | Completed

• 1 other identifier: 2006H0207
• Study Type: observational
• Target: 67
• Locations: 1 country
• Sites: 1

Brief Summary

The primary objective of this research protocol is to study and follow the course of motor neuron loss in individuals with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation (MUNE). This study is based on the hypothesis that the electrophysiological technique of motor unit number estimation (MUNE) and compound muscle action potential (CMAP) provide sensitive indicators to assess the severity and progression of disease in adults with SMA.

Conditions

Spinal Muscular Atrophy

Keywords

nusinersen; Spinraza; MUNE; CMAP

Outcome Measures

Primary Outcomes (2)

• MUNE

  The primary objective of this proposal is to study and follow the course of motor neuron loss in adults with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation (MUNE). This study is based on the hypothesis that the electrophysiological technique of motor unit number estimation (MUNE) can provide sensitive indicator data to assess the severity and progression of disease in adults with SMA.

  up to 15 years

• CMAP

  The primary objective of this proposal is to study and follow the course of motor neuron loss in adults with spinal muscular atrophy (SMA) using the electrophysiological technique of compound muscle action potential (CMAP). This study is based on the hypothesis that the electrophysiological technique of compound muscle action potential (CMAP) can provide sensitive indicator data to assess the severity and progression of disease in adults with SMA.

  up to 15 years

Secondary Outcomes (3)

• EIM

  up to 15 years

• Nusinersen

  up to 15 years

• Treatment insurance approval and safety

  up to 15 years

Study Arms (3)

SMA cohort

Individuals who have a diagnosis of SMA who are NOT receiving Spinraza (nusinersen).

SMA Spinraza cohort

Individuals who have a diagnosis of SMA who are receiving Spinraza (nusinersen).

Control cohort

Control participants will only come to a baseline visit and the only tests that will be completed are the EMG Measures (MUNE, CMAP, decomposition EMG) and EIM. There will be no further testing for those participants. This visit will take approximately 30-60 minutes. A total of 40 control participants are being recruited for this study.

Eligibility Criteria

• Age: 17 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals between 17-70 years of age who have been diagnosed with spinal muscular atrophy (SMA) regardless of current medical intervention (e.g., Spinraza). The control group will consist primarily of (but not restricted to) family members of those enrolled in the study who have a diagnosis of SMA.

You may qualify if:

• \. Adults age 17 to 70 with SMA type 2 or 3. The diagnosis of SMA must be documented by the homozygous deletion of both SMN1 genes on standard genetic tests for the disorder, and the determination of type 2 SMA by history of ability to maintain a sitting position when placed, or type 3 by the ability to stand and walk independently. Wheelchair mobile patients will not be excluded from the study.
• \. Interest in participating and the ability to travel to the study site on an agreed upon date on four occasions over a total interval of twenty-four months.
• \. Be in good health with the exception of SMA. Assessments will be rescheduled for a later date in the event of any intercurrent illness that might affect performance on the assessment.
• Healthy adults age 17 to 70
• Interest in participating and the ability to travel to the study site

You may not qualify if:

• \- Patients unable to tolerate the assessment by virtue of associated medical conditions, respiratory failure with ventilator dependence, or an obligatory need for orthotics that cannot be removed during the evaluation.
• \. Patients who are, in the investigator's opinion, mentally or legally incapacitated, preventing informed consent, or is unable to read and understand written material including the consent 3. Patients with a pacemaker or cardiac device
• Subjects with any neurological disorder
• Subjects with chronic medical illness that will interfere with their ability to tolerate the study
• Subjects who are, in the investigator's opinion, mentally or legally incapacitated, preventing informed consent, or is unable to read and understand written material including the consent.

Sponsors & Collaborators

• Ohio State University: lead
• Cure SMA: collaborator

Study Sites (1)

The Ohio State University Medical Center

Columbus, Ohio, 43210, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

blood

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

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

Study Officials

• Bakri Elsheikh, MD

  Ohio State University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: October 23, 2019
• First Posted: October 25, 2019
• Study Start: August 10, 2018
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: February 23, 2026

Record last verified: 2026-02

Locations

US (1)