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Spinal Muscular AtrophyDecember 2016

What Researchers Found Testing Nusinersen for Infant Spinal Muscular Atrophy

This early study gave nusinersen — an injection into the spinal fluid that boosts motor neuron protein — to 20 infants with SMA type 1, the most severe form. Babies hit motor milestones they would not have reached without treatment, and survival improved compared with natural history.

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.