The purpose of SMA Europe is to provide a framework to stimulate collaboration and accelerate translational research pathways in SMA and promote patient care.

  1. Elucidate the molecular mechanism underlying maturation and remodelling defects of the neuromuscular system in SMA

    Principal investigator(s) :
    Dr. Shingo Kariya
    Institution :
    University of Columbia (USA)
    Grant :
    124 314€
    Start year :
    Duration :
    2 years
    Status :

    • Q. What is the exact time in post-natal development when SMN is needed for healthy nerve-muscle connections?
    • A. The project is ongoing.
    Data obtained from previous studies have suggested that, if patients receive SMN therapy promptly, treatment past a certain age may not be necessary. It has also been shown that high SMN levels can restore residual muscle damage at a later date. This data is important in the light of therapies, such as antisense drugs (e.g. ISIS-SMNrx), which are currently in the early phases of clinical trials. Based on this previous data, Dr. Kariya is seeking to determine the time window during which SMN therapy should be given. In addition, the role of SMN in post-injury regeneration of muscle and other tissues will be determined.