In most situations, people with pathogenic variants in SOD1 will be aware of a family history of ALS, where multiple relatives have been diagnosed in the past. If you have a family history of ALS and are interested to know if it might be related to SOD1, please connect with an ALS clinician or research@als.ca for support in next steps.
In some cases, SOD1 pathogenic variants have been found in people living with ALS who do not have an obvious family history. Much of the ALS field is evolving to genetic testing practices for all people with ALS, but this is not common practice everywhere. If you have ALS and are interested in finding out if you have a SOD1 pathogenic variant, please speak to your clinician or contact research@als.ca for support.
An ongoing clinical trial with Qalsody (tofersen) is also searching for individuals with specific SOD1 pathogenic variants to be monitored for participation in a placebo-controlled clinical trial where treatment can begin when the disease process has started but before any clinical symptoms have been identified. A biomarker called neurofilament light (NfL) has been established to detect the early stages of this underlying process and Qalsody (tofersen) will be tested to study if it can delay the onset of symptoms. Individuals randomized to placebo will be provided active Qalsody (tofersen) treatment upon diagnosis, which is still earlier than anyone has ever been treated in previous clinical trials. If you have a known SOD1 related family history but do not have ALS, and are interested in learning more, please contact an ALS clinician or research@als.ca for support.
If you have a known family history of ALS, do not know if it is linked to SOD1, and are interested in learning more, please contact research@als.ca for support.
ALS Canada aims to provide opportunities for more learning and information about SOD1-ALS in the days ahead, in conjunction with the Canadian ALS Research Network (CALS). It is important that we do everything possible to make sure anyone who stands to benefit from Qalsody (tofersen) is identified and able to access the treatment.