The 2017 Annual SMA conference, attracted more than 2,200 attendees, including researchers, families, and medical care providers. The SMA Researcher Meeting is the largest research conference in the world that brings together leading scientists and doctors focused specifically on SMA. The meeting is structured to further research by building productive collaborations through dialogue and partnership between academics and drug companies.
A host of presentations by Biogen highlighting the first FDA approved drug for SMA, Spinraza, clearly demonstrated the numerous benefits of this treatment. Spinraza (Nusinersen) is an antisense oligonucleotide which is delivered by intrathecal injection and modulates an alternative splicing of the SMN2gene, functionally converting it into an SMN1 gene which results in increased levels of full length SMN protein in the CNS. Clinical trial data reinforces the significant and clinically meaningful efficacy of Spinraza in the achievement of motor milestones and measures of motor function across all types of SMA patients. Particularly, infants with SMA who do not yet show symptoms experience numerous benefits from Spinraza treatment, underscoring the importance of early intervention.
In an effort to identify SMA patients as early as possible, the launch of a campaign was announced at the Annual SMA Conference to implement newborn screening requirements for SMA in every state. The SMA Newborn Screening Coalition includes staff from Cure SMA, Biogen and AveXis. They are working to advocate on both the state and federal level to ensure appropriate funding and implementation of newborn screening that could lead to early intervention.
Despite the success of Spinraza in treating defective neuromuscular junctions in the CNS, there is a clear acknowledgement by both scientists and clinicians in the SMA community that SMN1 deficiency in other tissues also contributes to pathology. Presentations demonstrating defects in multiple tissue including muscle, spleen, and immune organs highlight the importance of treating peripheral tissue as well as motor neurons and the CNS. New developments in therapeutics that target muscle strength, target muscle machinery, modulate systemic splice modulation, or deliver gene therapy were presented that may help address SMA phenotypes outside of the neuromuscular junction.
Director of Preclinical Development
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