Projects

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. Outcome measures in SMA types II and III

    Principal investigator(s) :
    Professor Eugenio Mercuri
    Institution :
    Università Cattolica, Rome, Italy
    Grant :
    €276,000
    Grant Type:
    Operating Grant
    Call number :
    1
    Start year :
    2009
    Duration :
    2 years
    Status :
    Ended


    • Q.What are the best ways of measuring disease progression in SMA?
    •  A.Measuring change in SMA is challenging and more sophisticated measures are urgetnly needed to inform clinical trials.
      The prospect of clinical trials has highlighted the need to collect natural history data and for identifying methods of assessment that could be used as outcome measures. A recent study has suggested that the six-minute-walk test (6MWT) can be reliably used in ambulant outcome measure in clinical trials. In this study, Professor Mercuri aimed to establish the changes in the 6MWT observed in 31 ambulant type III patients over a 12-month period and possible relationships with age, baseline values and onset of the disease. They showed that, given a 12-month period, there were no significant changes in 6MWD. CHildren below the  age of 6 tended to have slightly better scores on the 12-moth changes while, after the afe of 6, pre-pubertal patients had a more variable range and a relatively higher risk of deterioration. Patients that have been able to walk beyond puberty were relatively more stable. The authors note that this should be kept in mind at randomization in clinical trials.