Background and purpose

SMA is an inherited neuromuscular condition which is caused by a mutation in the SMN gene. For some of the new therapeutic approaches currently under development, it is important to know the exact gene mutation, together with the physical characteristics or symptoms of the patient’s condition (the clinical phenotype). Therefore, each patient who registers needs to provide this genetic information and certain clinical details, which will be stored in the UK patient registry. This will allow scientists, physicians and clinicians to quickly and reliably find out how many patients might be suitable for a particular treatment. If this particular treatment is ready to be tested in a clinical trial, we can then contact these patients quickly and ask them if they want to participate in the trial.

SMA is a so-called rare condition and the number of patients who are affected is relatively low. In addition, for some of the new therapies, only patients with a specific mutation may be eligible. To test these SMA therapies, there might not be enough patients with the same mutation in a single country. For this reason it is very important to have not only national registries, but also a multinational SMA registry, in order to be able to find enough patients to participate in a particular trial. To this end, the genetic and clinical data from each of the participating national registries are transferred into a global registry: the global TREAT-NMD database for SMA. This will make it much easier to arrange multinational clinical trials. For more information, see the page “data usage”.

The SMA patient registry will also help determine how many people in Europe are affected by SMA, and will help achieve equal care for all SMA patients, i.e. to standardise the care in each country on what experts agree is the best.