Critical Steps in Days Following SMA Diagnosis: Thomas Crawford, MD


The pediatric neurologist at Johns Hopkins Medicine discussed the importance of early diagnosis in SMA, and the notable barriers that come with obtaining disease-modifying therapies. [WATCH TIME: 4 minutes]

WATCH TIME: 4 minutes

"The more important thing in the real world is these therapies are frightfully expensive. As a consequence, there’s a whole series of appropriate barriers to spending that many resources on them. We need to break down the walls of getting therapies to them [patients with SMA]."

There have been several major therapeutic breakthroughs in the treatment of spinal muscular atrophy (SMA) in recent years, headlined by the first approved agent, nusinersen (Spinraza; Biogen) and followed by a gene therapy and additional mRNA splicing medication. As this field continues to grow, the capabilities of treatment and research have come with it. Recently, a group of clinicians published data from the NURTURE trial (NCT02386553), with results that showed durability of treatment effect with nusinersen for up to 5 years.

The open-label study, led by Thomas Crawford, MD, included 15 children with 2 survival motor neuron (SMN2) copies and 10 children with 3 SMN2 copies who initiated treatment in the presymptomatic stage of their disease. Nusinersen, an antisense oligonucleotide administered with 4 loading doses over 2 months, followed by every 4 months, is approved for patients with SMA of all ages. Regardless of the type of therapy, clinicians believe that individuals with SMA should begin therapy as soon after diagnosis as possible, with data such as the NURTURE study to support this thought.

Crawford, a pediatric neurologist at Johns Hopkins Medicine, sat down with NeurologyLive® following the publication of NURTURE to discuss the importance of early detection and diagnosis of SMA. He provided insight on the complexities with getting access to treatments for infants in the days following a diagnosis, and why family planning may alleviate these issues. Furthermore, Crawford gave commentary on the need to continue to evolve the healthcare system, and why delays in treatment could be detrimental.

1. Crawford TO, Swoboda KJ, De Vivo D, et al. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & Nerve. 2023;68(2):157-170. doi:10.1002/mus.27853
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