Contrary to global developments and expert advice, today the NHS formally refused to back a newborn screening programme for spinal muscular atrophy.
In less than two weeks we will start celebrating Rare Disease Day – that annual day when all those who are affected by a rare disorder go out and speak about it. The global rare disease community holds celebrations throughout the world. This year TreatSMA will take part with an online campaign and a face-to-face event in the South East.
An event dedicated to the situation of SMA Families will take place on 25th February in the Parliament. Please invite your MP!
We are extremely happy to share the long-awaited news: the Scottish government will be making Spinraza available to all people with spinal muscular atrophy in Scotland.
Clinical development of gene therapy for SMA made a huge leap forward last Tuesday when doctors at the Great Ormond Hospital in London successfully administered AVXS-101 in a new clinical study. A newborn girl became the first child in the UK to receive the ground-breaking treatment presymptomatically.
For the third time a drug appraisal committee of the National Institute for Health and Care Excellence will meet to review the nusinersen (Spinraza) dossier. The meeting will take place on the 6 March in Manchester.
Below are some the most frequent questions and problems that we are seeing within the Type 1 community. We have compiled a guide based on the evidence from the newly Published Standards of Care, AA diet website and other documents or protocols that are used within the community.