improving standards of care and translational research in spinal muscular atrophy (sma)

Conditions: Spinal Muscular Atrophy

Summary: the sma reach uk network is a national and international partnership between doctors and therapists involved in the care of children and adults with spinal muscular atrophy. this network is supported by biogen and sma uk.

the investigators aim is to establish a spinal muscular atrophy (sma) national platform to improve uk standards of care, manage national and international clinical trials and facilitate translational research for this common neuromuscular disease. to achieve this purpose investigators will start to systematically collect longitudinal validated outcome measures for sma children followed at gosh, the largest cohort followed in uk, and pilot and update novel outcome measures. this will be done ensuring that data collected are not only clinically meaningful but also robust for subsequent use in clinical trials. in collaboration with the mrc neuromuscular centre in london and newcastle, investigators will link the existing registries and the longitudinal data collection of outcome measures and develop a hub and bespoke platform model linking the other paediatric uk centres involved in the clinical management of sma patients. this uk sma platform (sma reach uk) will be a unique infrastructure containing the largest comprehensive longitudinal series of sma patient data in the uk; the data collected will be agreed between the relevant other uk centres stakeholders and will take into consideration other international initiatives with historical success in sma treatment and research. ongoing analysis including modern psychometric techniques will ensure that the functional data collected in the uk sma population meets the high statistical standards required for the data to inform natural history studies and be usable as an outcome measure for clinical trials. in addition sma reach uk is in the position to be involved in an international initiative called ismac (international sma consortium) with two prestigious networks: the pncrn in the united states (principal investigator richard finkel) and the italian sma network (principle investigator eugenio mercuri). the consortium has been contacted by the biotechnology company; biogen with strong interest in collecting anonymised natural history data on the entire spectrum of sma severity from routine clinical visits. the main data to be collected, including medical information and physiotherapy assessments, were agreed across the three networks and will be slightly more extended than the current dataset collected at each centre. the data collected with the new dataset will be collated on a separate it platform which will contain anonymised clinical and physiotherapy data from patients who have consented to take part, and will be accessible to biogen and can be shared with third parties (pharmaceuticals, academic and government institutions) in a strictly anonymised form. the ownership of the data will remain with the pis at each centre.

Eligibility criteria:
inclusion criteria: * it will be genetically confirmed sma exclusion criteria: * involvement in clinical trials is not an exclusion criterion nor having had surgical procedures. patients who are participating in clinical trials with novel treatments will also be included in the database although the data from this subgroup won't be analysed in the natural history study, nor shared with pharmaceutical companies and other third parties as part of the ismac collaboration.