Thomas Crawford, MD, on Helping Patients With SMA Left Behind by Gene Therapy

“If we stop older children and adults from degenerating, it's not enough, but it's exactly the same thing, except that the timescale is now stretched out a much longer time. I know there's been a lot of disappointment amongst people who are already older, because they feel like they haven't gotten anything... But it's pretty clear that we're making a difference for everybody. It's just the young ones can see it. And the older ones. Are with a with wistful for not having more effect.”

Nusinersen, an antisense olignucleotide, was approved in 2016 under the name Spinraza (Biogen), as the first approved disease-modifying treatment for spinal muscular atrophy (SMA). The approval was supported by the phase 2 NURTURE study (NCT02386553). Long term data and updated analyses from the study recently showed that children with SMA who received nusinersen before the onset of clinical symptoms continued to maintain and make gains in motor function over 5 years. At the end of follow-up, 23 of 25 children were walking independently and new analyses suggest that early markers of disease activity may be predictors of motor function outcomes including respiratory function, swallowing, and feeding.

CGTLive spoke with Thomas Crawford, MD, investigator on the NURTURE study and codirector, Muscular Dystrophy Association Clinic, and professor of neurology, Johns Hopkins medicine, to learn more about the how the treatment landscape for SMA has changed during his time as a clinician. He discussed the unprecedented progress made in the field over his tenure but how older patients with SMA are often left behind and have not been able to enjoy the same benefits.

REFERENCE

Crawford TO, Swoboda KJ, De Vivo DC, 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