Spinal Muscular AtrophyNCT04139343
Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
An observational study of Spinal Muscular Atrophy, run by Ohio State University at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 17 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 67 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Aug 2018to 31 Dec 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 17 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 1. 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.
- 2. 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.
- 3. 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
Who cannot join
- 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.
- 2. 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
The Ohio State University Medical Center
Columbus, Ohio, 43210
About this study
Official title: The Role of Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
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.
Read the detailed description
This is a prospective pilot study to determine MUNE and CMAP values in a population of adults with SMA, assess how these electrophysiologic parameters change over time, and explore how well these parameters correlates with other outcome measures in SMA, including functional scales (SMAFRS and SF-36) and muscle strength (by MMT, MVICT, 6 minute walk test, time to climb 4 stairs and handheld myometry). The study was started in 2006 with 4 visits. It was initially intended to measure baseline and variability of values at baseline, 6 months, 10-14 months, and 20-24 months to better characterize the disease and to validate measurements as suitable outcome measures to be used in future therapeutic trials on adults. Individuals who do not take nusinersen would continue on this visit plan.
With the addition of the FDA approved drug nusinersen for SMA we would like to follow people who are receiving that treatment more frequently. The visits will fall in relationship to their treatment doses. Those patients who are receiving nusinersen will come in at a baseline visit that will be1 to 6 weeks prior to first treatment. Then they would follow-up one to 2.5 weeks after each treatment dosing that happens quarterly after the initial loading dose. There will be 10 visits over 3 years. The visits will occur at baseline, 2, 6, 10, 14, 18, 22, 26, 30, and 34 months. These additional visits will allow for better uniform monitoring of the response to treatment and resubmission to insurance providers. Additional long term data will be collected from interested/available patients every 2-3 years up to a max of fifteen years. Being followed long term would add 4-6 visits over 12 years. If subjects completed the study course in the past and are now starting nusinersen (SPINRAZA), those individuals are able to enroll again.
A total of 100 people with SMA will be enrolled in this trial. This will allow for two cohorts of people with SMA; those receiving treatment and those not receiving treatment.
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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- nusinersen, Spinraza, MUNE, CMAP
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: up to 15 years
Secondary outcomes (3)
EIM
Secondary Objective is to see if electrical impedance myography (EIM) correlates to the electrophysiological testing (see Primary Outcome measures: MUNE and CMAP).
Measured: up to 15 years
Nusinersen
Explore the changes in outcome measures in patients treated with nusinersen
Measured: up to 15 years
Treatment insurance approval and safety
Explore the insurance approval process, patient acceptance, and side effects of the newly approved FDA treatment of nusinersen.
Measured: up to 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Oct 2019
- Study start10 Aug 2018
- Primary completion31 Dec 2025
- Study completion31 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Ohio State UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 67 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ohio State University
- Sponsor type
- University, hospital or other
- Collaborators
- Cure SMA
- Responsible party
- Principal investigator, Bakri Elsheikh, Ohio State University
- Investigators
- Bakri Elsheikh, MD, Principal investigator, Ohio State University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04139343
- Sponsor's protocol ID
- 2006H0207
- Status last verified
- Feb 2026
- First submitted
- 23 Oct 2019
- Last updated
- 23 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 23 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Role of Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
- ClinicalTrials.gov ID
- NCT04139343
- Acronym / sponsor ID
- 2006H0207
- Conditions
- Spinal Muscular Atrophy
- Keywords
- nusinersen, Spinraza, MUNE, CMAP
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 67 participants (actual)
- Lead sponsor
- Ohio State UniversityUniversity, hospital or other
- Collaborators
- Cure SMA
- Study start
- 10 Aug 2018 (actual)
- Primary completion
- 31 Dec 2025 (actual)
- Study completion
- 31 Dec 2025 (actual)
- First posted
- 25 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is a prospective pilot study to determine MUNE and CMAP values in a population of adults with SMA, assess how these electrophysiologic parameters change over time, and explore how well these parameters correlates with other outcome measures in SMA, including functional scales (SMAFRS and SF-36) and muscle strength (by MMT, MVICT, 6 minute walk test, time to climb 4 stairs and handheld myometry). The study was started in 2006 with 4 visits. It was initially intended to measure baseline and variability of values at baseline, 6 months, 10-14 months, and 20-24 months to better characterize the disease and to validate measurements as suitable outcome measures to be used in future therapeutic trials on adults. Individuals who do not take nusinersen would continue on this visit plan.
With the addition of the FDA approved drug nusinersen for SMA we would like to follow people who are receiving that treatment more frequently. The visits will fall in relationship to their treatment doses. Those patients who are receiving nusinersen will come in at a baseline visit that will be1 to 6 weeks prior to first treatment. Then they would follow-up one to 2.5 weeks after each treatment dosing that happens quarterly after the initial loading dose. There will be 10 visits over 3 years. The visits will occur at baseline, 2, 6, 10, 14, 18, 22, 26, 30, and 34 months. These additional visits will allow for better uniform monitoring of the response to treatment and resubmission to insurance providers. Additional long term data will be collected from interested/available patients every 2-3 years up to a max of fifteen years. Being followed long term would add 4-6 visits over 12 years. If subjects completed the study course in the past and are now starting nusinersen (SPINRAZA), those individuals are able to enroll again.
A total of 100 people with SMA will be enrolled in this trial. This will allow for two cohorts of people with SMA; those receiving treatment and those not receiving treatment.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 17 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 1. 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.
- 2. 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.
- 3. 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
Key exclusion criteria (5 listed)
- 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.
- 2. 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
MUNE
Time frame: up to 15 years
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.
CMAP
Time frame: up to 15 years
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.
3 secondary outcomes
EIM
Time frame: up to 15 years
Nusinersen
Time frame: up to 15 years
Treatment insurance approval and safety
Time frame: up to 15 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Feb 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bakri Elsheikh, MD principal investigator
Ohio State University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Ohio State University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
MUNE (time frame: up to 15 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Feb 2026.