Pediatric gastroenterologists follow children with spinal muscular atrophy type 1 (Wernig-Hoffman disease) mainly due to feeding problems associated with the profound weakness. Two recent studies show promise for spinal muscular atrophy and are summarized in a “quick take” video: Quick Take NEJM video on SMA type 1

While these new therapies have improved the outcomes, long term data are needed.  With the adenovirus vector gene therapy, if the expression of the gene therapy declines, it may not be possible to do further infusions due to antibody development against the adeonviral vector.

With nusinersen, which has been approved for clinical use, the anticipated cost of $750,000 for the first year of therapy alone and ongoing need for intrathecal administration are problematic.