What the trial was testing
The trial enrolled 25 patients with spinal muscular atrophy. The study was sponsored by Biogen and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was initial testing (phase 2). Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
Babies on the higher dose hit motor milestones never seen without treatment.
The Lancet · 2016 · NCT02386553
These findings — that led to motor milestone gains and improved survival vs. natural history in infant SMA — were published in the The Lancet and represent the headline result of the study.
Researchers tracked outcomes across 25 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with spinal muscular atrophy, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
Nusinersen (Spinraza) is FDA-approved and available now for SMA in children and adults, given as a spinal injection every four months after loading doses. Two other treatments — onasemnogene abeparvovec (Zolgensma) and risdiplam (Evrysdi) — are also FDA-approved. Ask a pediatric neurologist about which fits your child best.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open spinal muscular atrophy trials
A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
This multicenter, non-interventional, prospective study with a retrospective component aims to evaluate the real-world clinical outcomes, safety profile, and motor function improvements of Risdiplam treatment in participants with Type I and Type II Spinal Muscle Atrophy over 24 months of treatment. The study will allow retrospective collection of medical history data and previous participants visits from the medical records.
Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1
GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1. participants aged from 2 weeks to younger than 12 months presenting with symptoms of SMA Type 1 who have never received a treatment OR are receiving the drug risdiplam 2. participants aged from 2 weeks to younger than 5 months who are at risk of developing SMA Type 1 (presymptomatic) and have never received treatment OR are receiving the drug risdiplam.