United States, Canada148 participantsStarted 2018-08-16
Plain-language summary
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 range
18 Years – 70 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
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
. Respiratory insufficiency, defined by the medical necessity for invasive or noninvasive ventilation for \>16 hours during a 24-hour period, at screening.
. 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.