This is a longitudinal, observational study of adult patients with genetically confirmed chromosome 5q SMA to examine the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen) for up to 30 months.
Who can participate
Age range18 Years – 70 Years
SexALL
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Inclusion criteria
✓. Ability to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use protected health information (PHI) in accordance with national and local subject privacy regulations.
✓. Males and females with SMA type II or type III, aged 18 to 70 years at the time of enrollment.
✓. Genetic documentation of 5Q SMA homozygous gene deletion, mutation, or compound heterozygote.
✓. Are treatment naïve for SPINRAZA® (nusinersen).
✓. Have been prescribed SPINRAZA® (nusinersen) by the treating physician as part of their clinical care for SMA following the FDA approved prescribing information guidelines as follows: dose level (12 mg), dosing schedule (3 loading doses administered at 14-day intervals, and the fourth loading dose administered 30 days after the third dose and subsequent maintenance doses administered every 4 months) and safety lab monitoring (CBC, PT, INR, PTT, UA) done prior to each dose administration.
✓. Believed to be able to complete all study procedures, measurements and visits.
✓. Estimated life expectancy at least 30 months from first dosing, in the opinion of the Investigator.
✕. Respiratory insufficiency, defined by the medical necessity for invasive or noninvasive ventilation for \>16 hours during a 24-hour period, at screening.
What they're measuring
1
Change from baseline in the 6-Minute Walk Test (6MWT) for ambulatory SMA patients
Timeframe: 30 months
2
Change from baseline in Revised Upper Limb Module (RULM) for weak ambulatory and non-ambulatory SMA patients
✕. Hospitalization for major medical event including: surgery (i.e., scoliosis surgery, other surgery), cardiac event, pulmonary event, or other major medical problem within 2 months of screening or planned major surgical procedure likely to impact the clinical assessments during the duration of the study. Outpatient surgical procedure (i.e., placement of feeding tube) is not considered an exclusionary major medical event.
✕. Presence of a symptomatic severe active infection or illness during the screening period that is likely to impact the performance on the clinical assessments.
✕. Prior exposure to SPINRAZA® (nusinersen).
✕. Prior disorder, injury (e.g., upper or lower limb fracture) or surgical procedure which impacts the subject's ability to perform any of the outcome measure testing required in the protocol and from which the subject has not fully recovered or achieved a stable baseline.
✕. Treatment with an investigational drug (e.g., oral albuterol/salbutamol, riluzole, carnitine, creatine, sodium phenylbutyrate, etc.), biological agent, or device within 1-month of Screening or 5 half-lives of study agent, whichever is longer. Patients using intrathecal drug delivery devices, including investigational devices with an active IDE designation in the United States, may be eligible but require Study PI approval prior to enrollment.
✕. Any history of exposure to gene therapy, antisense oligonucleotide therapy, or cell transplantation that was intended for the treatment of SMA.