SMA, a rare genetic neurodegenerative disorder affecting approximately 1 in 10,000 newborns, is typically fatal for untreated children by age two. However, the approval of disease-modifying medications have transformed the treatment landscape.
While three lifesaving medications for spinal muscular atrophy (SMA) have turned a deadly disease into a manageable condition, access to these treatments vary greatly across the globe, with economic considerations limiting their use in many regions, a survey published in Neurology: Clinical Practice reports.
SMA, a rare genetic neurodegenerative disorder affecting approximately 1 in 10,000 newborns, is typically fatal for untreated children by age two. However, the approval of disease-modifying medications have transformed the treatment landscape: Spinraza (nusinersen) and Evrysdi (risdiplam), which don’t cure the SMA but do modify the underlying disease process; and Zolgensma (onasemnogene abeparvovec-xioi), which is a one-time gene replacement therapy. Now, with early screening and presymptomatic treatment shortly after birth, babies with SMA can achieve normal motor milestones.
The survey’s authors sought to compare the availability and implementation of these SMA treatments in different regions of the world. Researchers surveyed 24 healthcare providers from 21 countries, representing all major continents. They found Spinraza was the most widely available SMA therapy, accessible in 19 of the 21 countries surveyed. Evrysdi and Zolgensma were each available in 15 countries.
The study also showed significant variation in drug pricing between countries, even among those with similar economic standings. For example, in 2021, the first-year cost of Spinraza ranged from approximately $165,060 in the U.K. to $834,106 in Brazil; Evrysdi ranged from $15,499 in China to $472,813 in Germany; and Zolgensma cost between $1,182,033 in Germany and $2,469,813 in Qatar.
Newborn screening, crucial for early diagnosis and treatment, was available in only eight of the 21 countries, with limited regional implementation in five of those. This mirrors prior research that showed only 2% of newborns worldwide were screened for SMA. Such tests are expanding – in the U.S., 99% of newborns are screened and other nations are piloting programs to adopt wider screenings as well.
Logistical challenges can also hinder access: Evrysdi, while priced lower than other SMA drugs, needs to be stored at cold temperatures, which isn’t always available in warmer countries in the Global South. Other barriers to treatment included medication costs (58% of respondents), difficulties obtaining insurance authorization (33%) and diagnosis delays (21%).
“Scientific breakthroughs have radically changed the expected duration and quality of life for some patients with SMA,” the study concluded. “However, people living under poor socioeconomic conditions are denied access to these life-saving therapies. Our job, as researchers and care providers, does not end with scientific breakthroughs, or by treating only those who can afford it.”
The survey results were presented at the American Academy of Neurology’s annual meeting in April by author Victor D. Armengol, MD, Department of Neurology, Yale University School of Medicine, in a poster presentation titled “Life-Saving Treatments for Spinal Muscular Atrophy.”
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