A research program to identify genetic variants in ALS (“ID-ALS” study) was carried out at 16 ALS centres in Germany from October 2022 to February 2024, with study coordination by outpatient partners. 2,000 people with ALS participated in this study. This study was based on previous research findings that genetic changes in the SOD1, C9orf72, FUS, and TARDBP genes are present in around 10% of all people with ALS. This study investigated the frequency of genetic alterations, particularly in patients without a family history of ALS. 

Another key research question was the identification of people with ALS who could be considered for treatment with future genetic drugs. The identification of genetic changes in the SOD1, C9orf72, and FUS genes was of particular importance, as Tofersen and ION363 were new drugs in development that were aimed at therapeutically influencing these genes. 

The results of this study were shared with the scientific community in 3 publications. Furthermore, the genetic screening program was presented at the ENCALS Congress – the annual meeting of the European ALS Consortium – in Barcelona in July 2023 and in Stockholm in June 2024. The project has enabled more than 20 patients to be reassigned to the hardship program with Tofersen and 4 patients to the ION363 (FUSION) study. This study marks the starting point of Ambulanzpartner’s ALS genetics program, which organises access to genetic testing in ALS and its scientific evaluation.