Tofersen is an antisense oligonucleotide that is used for the intrathecal treatment of amyotrophic lateral sclerosis (ALS) in patients with superoxide dismutase 1 (SOD1) mutations. The approval of Tofersen is imminent. The drug has been available since February 2022 as part of a hardship programme. The drug has been approved in the USA.
Studies on larger cohorts of patients with ALS have shown that pathogenic variants in the core genes for ALS can be found in 14% of cases, even in patients for whom there is no indication of a familial disease in the family tree analysis. The proportion of changes in the SOD1 gene is 2.7%. The remainder is accounted for by the other core genes C9orf72, FUS and TARDBP. The use of Tofersen can reduce the progression of ALS by reducing the aggregation of TDP43. In some patients, there is a two-stage process between loss of function and apoptosis of the motor neurones, resulting in the restoration of neurological functions that have already been lost. The determination of the neofilament light chain (NFL), which normalises during treatment, is suitable for monitoring the treatment.
We offer to analyse your patients with ALS for the known core mutations. Antisense oligonucleotide treatment is also expected to be established for the C9orf72, FUS and TARDBP mutations in the next five years.
As a human genetics laboratory, we can now offer this analysis of the 4 core genes quickly and reliably.
and reliably.
Duration: approx. 4 weeks
Material: 2 ml EDTA blood sample
Referral slip/request slip incl. declaration of consent
You can find our complete request document here.
You can also contact us at any time with your questions.