With the Food and Drug Administration’s approval of the first gene-targeted therapy for ALS – and at least nine more in clinical development – genetic counseling and testing has become increasingly important. However, genetic counseling and testing is still not routinely offered to people with ALS in the United States.
Leveraging more than $3 million in support from The ALS Association, researchers from UMass Chan Medical School, the National Institutes of Health and Emory University have developed a cloud-based central repository of genetic data related to ALS and frontotemporal dementia (FTD). ALS Compute compiles data from multiple large-scale initiatives into one easily accessible dataset that is far more powerful than any single dataset alone.
Dr. Laura Ranum, director of the University of Florida’s Center for NeuroGenetics and the Kitzman Family Professor of Molecular Genetics and Microbiology, is currently conducting a phase 2 trial for C9orf72-linked familial ALS with support from the Association’s Clinical Trial Awards Program.
In March 2022, after several months of multiple doctor visits and many tests, Jacob Harper was diagnosed with P525L FUS ALS—a nano-rare version of ALS only found in people under the age of 25. Jacob is on the Jacifusen clinical trial trying to slow progression, as he shares his testimony with people from all over the world.
The FDA announced it has granted accelerated approval to tofersen, a treatment for people living with mutations of the SOD1 gene. This is a significant victory for the ALS community and our efforts to make ALS livable for everyone, everywhere, until we can cure it.
The ALS Association commends the FDA for approving tofersen under the agency’s accelerated approval pathway for the treatment of people living with ALS connected to mutations in the SOD1 gene. This marks the first time the FDA has approved a treatment for ALS under accelerated approval and serves as a promising endorsement of the antisense technology that underlies tofersen.
While knowledge is power in many circumstances, knowing you have lost several members of your family to familial ALS, and understanding you may also carry the mutated gene, can be a heavy burden to live with. With technology continuously evolving, new potential treatments in the ALS research pipeline through clinical trials and the ability to get answers through a genetic test, there are more factors to consider today than ever before. Peter Hackett shares his family's ALS story and what led him to the decision of taking the genetic test.
Larry Falivena, member of The ALS Association’s Board of Trustees who is living with ALS, shares his unique experience with the disease and his perspective on genetic testing.
With the emergence of gene-targeted therapies, knowing whether your ALS has an underlying genetic cause is becoming more important. Research has shown that about two-thirds of people with familial ALS and about 10% of people with sporadic ALS (no family history) have a mutation (or change) in at least one of the more than 40 genes that have been linked to the disease.
The ALS Association submitted comments to the FDA’s Central and Peripheral Nervous System Advisory Committee, urging it to recommend approval of tofersen for people with ALS linked to a SOD1 gene mutation. The committee will meet virtually on March 22 to review data associated with Biogen’s new drug application.