Zolgensma (onasemnogene abeparvovec-xioi), the newly approved gene therapy to treat SMA in infants and children under 2 years old, works by delivering directly to motor neurons a healthy copy of the SMN1 gene that is damaged by mutations in these patients and unable to make an essential protein. Carried…
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Bogdana Patrascu will never forget the day she learned that her then-3-year-old daughter, Alberta, had spinal muscular atrophy (SMA). The news came in a March 2016 phone call from Alberta’s pediatric neurologist, as Patrascu — a radiologist in Timisoara, Romania — was driving home from work. She had taken…
Zolgensma, a first gene therapy for spinal muscular atrophy — and first for any chronic neurologic disease — is now an approved and potential “one-time” intravenous treatment for pre-symptomatic newborns through 2-year-olds with any type of SMA, the U.S. Food and Drug Administration (FDA) announced today, issuing an historic decision.
A child who barely moved in the womb in the final months before his birth and then had multiple bone fractures at birth was diagnosed with spinal muscular atrophy (SMA) type 0, researchers reported. The case study, “Type (0) spinal muscular atrophy associated with fractures at birth,” was…
Treatment with the experimental oral therapy risdiplam has been enabling patients with spinal muscular atrophy (SMA) to achieve key development milestones and clinically meaningful motor improvements beyond the natural history of the disease. Susan Begelman, MD, vice president, Neurology, Nonmalignant Hematology, Influenza, U.S. Medical Affairs at Genentech,…
Long-term results show Spinraza (nusinersen) is of unprecedented benefit to a broad range of spinal muscular atrophy (SMA) patients, said Wildon Farwell, executive director of clinical development at Biogen, which markets this approved treatment. With clinical development that spans “presymptomatic infants, to symptomatic infants, to symptomatic children,” Spinraza has “demonstrated…
With the U.S. Food and Drug Administration (FDA) expected to soon decide whether Zolgensma (onasemnogene abeparvovec) can treat people with spinal muscular atrophy (SMA) type 1, clinical trials of the gene therapy are showing rapid benefits across disease types. Those gains might justify a broader label — one allowing…
Patients of all ages with spinal muscular atrophy (SMA) will now be able to be treated with Spinraza (nusinersen) in England, after the…
Destiny McCalvin gave birth to her second child, a girl she named Kenzlee, after what she and her doctors took to be an uneventful pregnancy in 2011. “She seemed like a normal baby; she weighed 7 pounds 7 ounces, no issues,” her mother said. But “issues” soon became clear: “It…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…
