Spinal Muscular Atrophy (SMA) is an autosomal recessive genetic disease that affects the motor neurons of the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing.
Approximately 1 in 6000 babies born are affected and about 1 in 40 people are genetic carriers. Childhood SMA can be divided into three subtypes depending on disease onset and severity but all patients suffer from degeneration of motor neurons controlling voluntary muscles with proximal limb and trunk muscle weakness leading to respiratory distress and in the most severe cases, ultimately death.
Recent advances into drug development have resulted in specific therapies becoming available for SMA. Other compounds are also under investigation via clinical trials. These rapid advances has pushed the development of outcome measures for SMA patients considerably over the last few years. In preparation for the inevitable, there is the ongoing need for a robust clinical and research Network composed for designing and improving upon suitable outcome measures for clinical trials. We propose the development of the SMA Research And Clinical Hub UK – SMA REACH UK to accomplish this.
SMA REACH UK is involved with an international initiative called ISMAC (International SMA Consortium) with two prestigious Networks: the Paediatric Neuromuscular Clinical Research Network in the United States (Principal Investigator Richard Finkel) and the Italian SMA Network (Principle Investigator Eugenio Mercuri).
The consortium is in collaboration with Biogen to collect anonymised natural history data of SMA patients covering the entire spectrum of SMA severity.
SMA REACH UK is also supported by SMA UK, Muscular Dystrophy UK and Treat SMA charities.
Our mission is to establish the first national clinical and research network named SMA REACH UK (SMA Research And Clinical Hub UK). SMA REACH UK has been designed, piloted and are expanding this electronic database. The database streamlines the collection of data for paediatric patients across the UK and aim to continue this in the future
SMA REACH UK aim to utilize streamlined assessment tools throughout the SMA community to accomplish the following objectives.
Furthermore, we aspire to develop national agreements for SMA patients on
- clinical assessment
- physiotherapy assessment
- treatment for SMA patients
- standards of care for SMA patients