This Editorial examines how the emergence of new therapies impacts the survival and motility of children and adults with spinal muscular atrophy and Duchenne or Becker muscular dystrophy, limb girdle muscular dystrophy, late-onset glycogenosis type 2, myotonic dystrophy and facioscapulohumeral dystrophy.
An overview of the history of SMA is provided, highlighting its evolving classification and the genetic basis underlying its clinical variability, and the development and clinical trial data of the three Food and Drug Administration- and European Medicines Agency-approved therapies: nusinersen, onasemnogene abeparvovec...
Olcay Ünver, J. Wilmshurst, Haluk A. Topaloglu· Journal of International Chi...· 0 citations
Although recent years are marked by significant advances in the understanding of disease pathogenesis and in the development and implementation of therapies to treat SMA, there are still ongoing challenges and unmet needs that will require new and innovate solutions to more fully address the needs of individuals with S...
Charlotte A. René, Robin J. Parks· Therapeutic Advances in Neur...· 0 citations
Libya has taken steps to establish a national framework for managing NMDS, however, long -term sustainability and availability of genetic therapies remain challenges.
Aaedah A. A. Senussi, Khamiss Ahmad· International Innovations Jo...· 0 citations
This review highlights genetically targeted therapeutics showing impact for muscle manifestations of DM1, ongoing efforts now shifting to expand to other target tissues and the younger population, and the understanding of societal burden and population genetics of DM1.
Samuel Carrell, Adam D. Comer, Nicholas E. Johnson· Current Opinion in Neurology· 1 citation
Genomics is rapidly becoming an essential component of day-to-day pediatric neurology practice rather than a niche research discipline, and preparing the workforce through initiatives such as the Child Neurology Society Genetics Curriculum and partnering with patient advocacy organizations will be critical to ensuring...
Kuntal Sen, Andrea L. Gropman, Cansu Ensert Cihan et al.· Current opinion in pediatric...· 0 citations
The pathogenesis of MG is reviewed, the current applications of conventional drugs, targeted biologics, thymectomy, and gene therapy in its treatment are outlined, existing therapeutic challenges are analyzed, and future directions, such as precision medicine and novel targeted therapies are explored.
Jia-Qi Lin· International Journal of Pub...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
