UK SMA Patient Registry activities

Standards of care in the UK

In 2007 an International Standards of Care Consensus was reached for children, young people and adults with SMA. This was published and has been available to medical teams and people affected by SMA and their families since then. In February 2016 clinical researchers and patient representatives from Europe and US met in Naarden, the Netherlands, to work on the major review of the international Standards of Care for SMA. The lay summary of this meeting is available on the workshop organiser’s website here.  

It was really important that the reviewers knew what was actually happening for people with SMA in their day to day care so that they can use this information when they set out the new standards. At the beginning of 2016 the registry has sent out to regsitry participants a survey in which people with SMA and their families were asked about their experiences of care in the UK. Some of the initial findings from the survey were presented at meeting in February. The full results are hoped to be published as well and a summary of those results will be shared with the registry participants. 

SMA Screening Project

Between September 2014 and June 2015, regsistry participants were sent a link to a survey about screening for SMA. This survey was part of the ‘Imagining Futures’ research project, conducted by Dr. Felicity Boardman, at Warwick Medical School. This study set out to explore how families living with SMA feel about a screening programme for SMA. Whilst the UK National Screening Committee (the independent body offering policy advice to ministers on screening) conducts periodic open policy consultations on SMA screening (the last one concluding in December 2013), there has been little to no evidence included in these about the views of families living with SMA. The Imagining Futures study was designed to gather this evidence in order for it to be included in the next policy review, due to take place in 2016/17.

Overall, the study revealed that whilst the majority of people affected by SMA support some form of screening, there were nevertheless sub-groups (particularly adults with SMA and families living with type 2) who had reservations about what a screening programme might mean in practice. For further information about the study and a full report on the findings of the study, please click here.