Clinical trial

Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

NCT05219487

Name

2021H0158

Description

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.

Trial arms

Trial start

2021-10-13

Estimated PCD

2024-12-31

Trial end

2024-12-31

Status

Recruiting

Treatment

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 names:

Evrysdi®

Size

Primary endpoint

Decrement on repetitive nerve stimulation

Baseline

Eligibility criteria

Inclusion Criteria: * Signed Informed Consent Form * 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: * Treatment with an investigational therapy within 180 days prior to initiation of study drug * 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

Protocol

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'OTHER', 'timePerspective': 'PROSPECTIVE'}, 'enrollmentInfo': {'count': 30, 'type': 'ESTIMATED'}}

Updated at

2024-03-05

1 organization

1 product

1 indication

Organization

Bakri Elsheikh

Product

Risdiplam

Indication

Spinal Muscular Atrophy