Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04139343
Recruitment Status : Recruiting
First Posted : October 25, 2019
Last Update Posted : October 19, 2020
Sponsor:
Collaborator:
Cure SMA
Information provided by (Responsible Party):
Bakri Elsheikh, Ohio State University

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.

Condition or disease
Spinal Muscular Atrophy

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.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 140 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: The Role of Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
Actual Study Start Date : August 10, 2018
Estimated Primary Completion Date : July 31, 2022
Estimated Study Completion Date : December 30, 2022


Group/Cohort
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.



Primary Outcome Measures :
  1. 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.

  2. 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.


Secondary Outcome Measures :
  1. EIM [ Time Frame: up to 15 years ]
    Secondary Objective is to see if electrical impedance myography (EIM) correlates to the electrophysiological testing (see Primary Outcome measures: MUNE and CMAP).

  2. Nusinersen [ Time Frame: up to 15 years ]
    Explore the changes in outcome measures in patients treated with nusinersen

  3. Treatment insurance approval and safety [ Time Frame: up to 15 years ]
    Explore the insurance approval process, patient acceptance, and side effects of the newly approved FDA treatment of nusinersen.


Biospecimen Retention:   Samples Without DNA
blood


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   17 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

Criteria

Inclusion Criteria:

  • 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.

Inclusion criteria for control subjects:

  1. Healthy adults age 17 to 70
  2. Interest in participating and the ability to travel to the study site

Exclusion Criteria:

- 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

Exclusion criteria for control subjects:

  1. Subjects with any neurological disorder
  2. Subjects with chronic medical illness that will interfere with their ability to tolerate the study
  3. 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04139343


Contacts
Layout table for location contacts
Contact: Julie Agriesti, MACPR, CCRC 614-685-5815 Julie.Agriesti@osumc.edu
Contact: Sarah Heintzman, RN 614-293-4973 Sarah.Heintzman@osumc.edu

Locations
Layout table for location information
United States, Ohio
The Ohio State University Medical Center Recruiting
Columbus, Ohio, United States, 43210
Contact: Marco Tellez    614-688-7837    Marco.Tellez@osumc.edu   
Sponsors and Collaborators
Ohio State University
Cure SMA
Investigators
Layout table for investigator information
Principal Investigator: Bakri Elsheikh, MD Ohio State University
Layout table for additonal information
Responsible Party: Bakri Elsheikh, Professor, Ohio State University
ClinicalTrials.gov Identifier: NCT04139343    
Other Study ID Numbers: 2006H0207
First Posted: October 25, 2019    Key Record Dates
Last Update Posted: October 19, 2020
Last Verified: October 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Keywords provided by Bakri Elsheikh, Ohio State University:
nusinersen
Spinraza
MUNE
CMAP
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases