Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration
NCT ID: NCT05219487
Last Updated: 2024-12-31
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
30 participants
OBSERVATIONAL
2021-10-13
2025-12-31
Brief Summary
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Detailed Description
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Assessments will include medical history, general physical and neurological examinations, vital signs, and the recording of adverse events. Diagnostic tests will include repetitive nerve stimulation (RNS), motor unit number estimation (MUNE), and decomposition EMG (dEMG). Further evaluations will utilize the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), the modified SMA Functional Rating Scale (SMAFRS), and the Fatigue Severity Scale (FSS). For ambulatory subjects, the assessment will include a six-minute walk test, while for non-ambulatory subjects, the Children's Hospital of Philadelphia Adult/Adolescent Test of Neuromuscular Disorders (CHOP INTEND) will be performed. Handheld dynamometry will be used to measure strength in bilateral shoulder abduction, elbow flexion, elbow extension, hip flexion, hip abduction, hip adduction, knee flexion, and knee extension.
The study aims to investigate the impact of Risdiplam on neuromuscular junction (NMJ) function by assessing changes in the percent decrement of the compound muscle action potential amplitude, as measured through 3 Hz repetitive nerve stimulation (RNS) of the spinal accessory nerve. These results will be compared to historical controls. Additionally, the study will evaluate the differences in strength, motor function, and electrophysiological test scores between groups, which will be stratified based on a 10% decrement cutoff. Further analysis will explore the association between these measures and percent decrement among ambulatory and non-ambulatory patients.
Conditions
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Study Design
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OTHER
PROSPECTIVE
Interventions
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Risdiplam
Risdiplam is administered orally once daily and the recommended dosage is determined by age and body weight (see Table 1) \[as outlined in the US Prescribing Information for EVRYSDI™(risdiplam)\].
Table 1 Adult and Pediatric Dosing Regimen by Age and Body Weight: US Prescribing Information
Age and Body Weight (Recommended Daily Dosage): 2 months to less than 2 years of age (0.2 mg/kg); 2 years of age and older weighing less than 20 kg (0.25 mg/kg); 2 years of age and older weighing 20 kg or more (5 mg)
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Age 18-70 years at time of signing Informed Consent Form
* Able and willing to provide written informed consent and to comply with the program protocol according to ICH and local regulations
* Ability to comply with the study protocol, in the investigator's judgment
* Adequately recovered from any acute illness at the time of screening, and considered clinically well enough to participate, in the opinion of the treating physician
* Patients with retinopathy of prematurity should have evidence of stable disease
* Genetic confirmation of 5q SMA documented on standard genetic tests for the disorder
* Treated with risdiplam for a duration of 12 months or longer
Exclusion Criteria
* History of established diagnosis of neuromuscular junction disorder
* Co-morbid conditions that preclude travel or testing
* Patients who are, in the investigator's opinion, mentally or legally incapacitated to provide an informed consent
18 Years
70 Years
ALL
No
Sponsors
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Genentech, Inc.
INDUSTRY
Bakri Elsheikh
OTHER
Responsible Party
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Bakri Elsheikh
Professor of Neurology
Principal Investigators
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Bakri Elsheikh, MBBS
Role: PRINCIPAL_INVESTIGATOR
Ohio State University
Locations
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The Ohio State University Wexner Medical Center
Columbus, Ohio, United States
Countries
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Central Contacts
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Facility Contacts
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Gia Cinkay
Role: primary
Marco Tellez, CCRP
Role: backup
Other Identifiers
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ML43109
Identifier Type: OTHER
Identifier Source: secondary_id
2021H0158
Identifier Type: -
Identifier Source: org_study_id