T.P.35: Developing the SMA REACH UK database: A combined effort to improve standards of care and translational research in Spinal Muscular Atrophy

Abstract

Exciting developments in the field of SMA mean there are potential therapeutic treatments on the horizon for this debilitating disease. Such advancements require robust valid outcome measures for clinical trials and agreed standards of care. A number of functional scales have been used in the last few years for SMA; while they capture important aspects of SMA function, each have shortcomings evident both clinically and by Rasch analysis. A new study SMA REACH UK (SMA REsearch And Clinical Hub) aims to form a national UK network, with robust links to other international networks, to establish and implement optimal functional assessment tools and standards of care for patients with SMA, thereby facilitating translational research. At inception SMA REACH UK organised a workshop in London (December 2013) with Physicians and Physiotherapists from the UK, Italy and USA. The workshop centred on clinically reported functional scales in SMA types 2 & 3 – HFMSE, NSAA for SMA, 6MWT, PUL and ULM for SMA. Each scale was discussed regarding clinical trial readiness, lessons learnt from SMA Europe, Rasch analysis, clinical meaningfulness, and sensitivity to change. This resulted in the creation of an Exploratory HFMSE and revised ULM for SMA. The Exploratory HFMSE and revised PUL for SMA have been prospectively tested together with the original HFMSE, NSAA for SMA and 6MWT in London, Newcastle and Rome since January 2014. In addition patient/parent reported outcome measures have been piloted in London and Newcastle. We present findings from SMA REACH UK on the clinical trial readiness of these novel outcome measures. Future work as part of this study will address functional scales in type 1 SMA, and the use of patient/parent reported outcome measures in SMA. This work will be an invaluable tool for centres likely to be involved in upcoming multicentre randomised controlled trials in SMA but also as a clinical platform for centres involved in the management of these patients.