5q- Spinal muscular atrophy (SMA) is a progressive inherited disorder of the motor neurons due to bi allelic mutations in SMN1 gene responsible for a high mortality in infancy, and significant morbidity in childhood, adolescence and into adult life. Advent of SMN1 gene splice modifiers have revolutionised the therapeutic landscape in SMA. Nusinersen is the first such treatment in SMA and is delivered intrathecally via lumbar puncture (LP). Nusinersen is currently accessible to the UK SMA patients via a managed access agreement.

LPs are difficult in some patients due to previous spinal fusion surgery (especially in Type 2 SMA), obesity, and other anatomical challenges. Some patients and families find repeat LPs intolerable. A proportion of SMA patients therefore have not been able to access nusinersen for the above reasons, although they would otherwise choose nusinersen as the treatment of first-choice. Nusinersen delivery via a lumbar port and catheter system is not licensed. However it has been successfully attempted in other European and US centres before.

Here we report the details and protocols of the first UK adult and paediatric SMA patients who underwent lumbar port and catheter insertion to successfully deliver nusinersen treatment, thereby maintaining the choice of a therapeutic option for a proportion of SMA patients.