If you have been diagnosed with ALS and have tested positive for a pathogenic (disease-causing) variant, you may be able to participate in clinical research that has a genetic focus.
If you tested positive for a variant in the SOD1 gene and live in the United States or another country where tofersen (Qalsody) has been approved, you can ask your neurologist about the potential benefits and risks of this therapy and whether it might be right for you.
If you tested positive for a variant in the SOD1 gene and live in the United States or another country where tofersen (Qalsody) has been approved, you can ask your neurologist about the potential benefits and risks of this therapy and whether it might be right for you.
Genetic Counseling and Testing
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Current consensus guidelines recommend that all individuals diagnosed with ALS be offered genetic counseling and genetic testing, regardless of whether they have a known family history of the disease.
If you have been diagnosed with ALS and have not had genetic testing but are interested, you can ask your neurologist or a genetic counselor what testing might mean for you and your family. You can learn more about genetic counseling and testing on our Genetic ALS page. |
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Gene-Targeted Therapies for ALS
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Even though tofersen is only available for approximately 2% of all people living with ALS in the U.S., results have demonstrated that it is possible to slow ALS progression in a meaningful way for some people.
Tofersen uses small pieces of genetic material called antisense oligonucleotides (ASOs) that lower the production of harmful proteins. Researchers are hopeful they can use this approach to target variants in other genes. |
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In addition to ASOs, researchers are working on different technologies, including gene-editing with CRISPR, small interfering RNA (siRNA), and AAV viral vector therapy, that they hope will modify or correct the underlying causes of genetic ALS.
“The development and approval of tofersen is really transformative for the field.”
- Dr. James Berry, Sean M. Healey & AMG Center for ALS at Mass General
- Dr. James Berry, Sean M. Healey & AMG Center for ALS at Mass General
More about tofersen (QALSODY)
Tofersen is injected into the cerebrospinal fluid that surrounds the brain and spine, a procedure that may be referred to as an intrathecal injection, lumbar puncture, or spinal tap. After three initial loading doses, one maintenance dose is given every month after that.
Some people have had serious side effects and adverse health events after taking tofersen. If you have a verified variant in the SOD1 gene, you can discuss the potential benefits and risks of taking tofersen with your neurologist.
Some people have had serious side effects and adverse health events after taking tofersen. If you have a verified variant in the SOD1 gene, you can discuss the potential benefits and risks of taking tofersen with your neurologist.
Clinical Research for Genetic ALS
Clinical trials test whether an experimental drug or treatment will be effective in people. There are few clinical trials that have a genetic focus, but with more experimental drugs in the pipeline, the number will likely increase.
The ALS research community is awaiting results from the FUSION trial (in Phase 3 and no longer enrolling) that is testing the experimental drug ION363 (ulefnersen / jacifusen) in people who have a pathogenic variant in the FUS gene.
The ALS research community is awaiting results from the FUSION trial (in Phase 3 and no longer enrolling) that is testing the experimental drug ION363 (ulefnersen / jacifusen) in people who have a pathogenic variant in the FUS gene.
Silence ALS
Silence ALS is a research program that discovers and develops ASO medicines for people who have an ALS diagnosis caused by a very rare mutation in the ANXA11, CHCHD10, KIF5A, PFN1, SETX, TARDBP, VAPB, or VCP genes. Silence ALS does not work on SOD1, C9orf72, or FUS. To learn more about the program and eligibility, visit the Silence ALS webpage.
In observational studies—unlike clinical trials—you do not take an experimental drug or treatment. Instead, researchers observe you and collect information through online surveys, in-person exams, blood draws, and other means.
When people who have ALS and a genetic variant participate in observational studies, it can help researchers build a better understanding of genetic ALS.
The ASSESS ALL ALS study funded by the NIH aims to advance ALS research and accelerate the development of new treatments by collecting and sharing data and samples from people with symptomatic ALS—genetic and non-genetic. You can participate in-person at a study site or 100% remotely from home. You may enroll regardless of your disease stage or where you live in the U.S.
The ALS Research Collaborative (ARC) Study is an ongoing observational study from ALS TDI that is open to all people diagnosed with ALS. The study seeks more symptomatic and asymptomatic gene carriers in order to better understand genetic ALS. ARC gathers and shares de-identified information with ALS researchers around the world. Participation is fully remote.
When people who have ALS and a genetic variant participate in observational studies, it can help researchers build a better understanding of genetic ALS.
The ASSESS ALL ALS study funded by the NIH aims to advance ALS research and accelerate the development of new treatments by collecting and sharing data and samples from people with symptomatic ALS—genetic and non-genetic. You can participate in-person at a study site or 100% remotely from home. You may enroll regardless of your disease stage or where you live in the U.S.
The ALS Research Collaborative (ARC) Study is an ongoing observational study from ALS TDI that is open to all people diagnosed with ALS. The study seeks more symptomatic and asymptomatic gene carriers in order to better understand genetic ALS. ARC gathers and shares de-identified information with ALS researchers around the world. Participation is fully remote.
If you have a genetic form of ALS, you can still participate in many of the trials and studies that do not have a genetic focus. You will just need to check eligibility criteria and confirm your eligibility with the research team.
To find trials and studies that have a genetic focus, ask your neurologist or clinic team if they know of any genetic research opportunities. It is also important to use online search tools that can filter for genetic trials and studies. For detailed guidance on using online search tools, visit our Finding Trials and Studies page.
Resources
- End the Legacy is an advocacy organization and community that provides support, educational webinars, and advocacy opportunities for people impacted by genetic ALS and FTD.
- This My ALS Decision Tool™ from the Les Turner ALS Foundation can walk you through the genetic testing process and help you make informed decisions.
- The Benefits and Risks of Genetic Testing for People Living with ALS landing page from the ALS Association provides an overview of genetic testing and a link to information about genetic counseling.
- The Genetics and ALS webinar hosted by Everything ALS addresses the implications of genetic testing and explains differences between familial and sporadic ALS.
- The Genetic Testing and Counseling webinar hosted by NEALS answers common questions about testing and counseling.
- The Conversation with a Genetic Counselor webinar hosted by the Les Turner ALS Foundation discusses the genetics of ALS-FTD spectrum disorders, the genetic testing process, and more.
- The ALS Genes and Mutations webpage from the ALS Association goes into greater depth on the specific genes that have been linked to ALS.
- The Association for Frontotemporal Degeneration provides education and support for families impacted by FTD.
