TMED11 Conference
Shaping Future Healthcare with Clinical Research and Personalised Prescribing
Join us at the historic Guildhall, Derry-Londonderry for the 11th TMED Conference – a leading international event in translational medicine bringing together clinical researchers, academics, industry partners and healthcare innovators from across the UK and Europe.
Poster 11- Intrathecal Tofersen for treatment of SOD1 Motor Neuron Disease in Northern Ireland
Authors: McCullagh M1, McKee J1, McVerry F1, McCarron M1, McCluskey G1
Affiliations: Department of Neurology, Altnagelvin Hospital, Glenshane Rd, Derry BT47 6SB
Background/ Introduction: Motor Neuron Disease (MND) is a devastating progressive neurological condition with a typical survival of 2-5 years from symptom onset1. Approximately 1-2% of cases of MND are caused by a mutation in the superoxide dismutase 1 gene (SOD1)1. Tofersen, a novel antisense oligonucleotide, has been approved for treatment of SOD1 MND and has been shown to reduce neurofilament light chain (NFL) levels and slow the rate of disease progression2. It is currently available in the UK through an early access to medicine program (EAP). Delivering this treatment is hugely resource intensive and a significant burden on patients, requiring facilities and expertise to deliver 4 weekly intrathecal injection leading to many patients in the UK being unable to access this innovative treatment.
Material & Methods: We have developed a service in Altnagelvin Hospital for delivery of intrathecal Tofersen for all eligible patients in Northern Ireland (NI). Patients receive 3 loading doses of 100mg intrathecal tofersen 2 weekly and then 4 weekly 100mg longterm, with 3 monthly assessments of disease progression using the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-r), 4 weekly serum and cerebrospinal fluid (CSF) monitoring of NFL.
Results: Three eligible patients have participated in the EAP, each with different SOD1 pathogenic mutations- p.Gly73Ser, p.Phe21Ile, p.Ile114Thr. Since commencement of the EAP in Altnagelvin hospital, the median number of treatments per patient has been 8 to date. One patient experienced aseptic meningitis and papilloedema, which improved after a brief cessation in therapy. CSF NFL levels dropped by >75% in the patient with elevated baseline NFL. ALSFRS-r score was stable in all cases.
Conclusion: Tofersen represents a significant advancement in the treatment of SOD1 MND with the advent of a precision genetic therapy. To date treatment has been well tolerated by all patients, but it is important to closely monitor for severe neurological side effects. We show the development of an intrathecal drug delivery service to provide this innovative treatment to patients in NI.
