In This Video
- On average, it takes 12 months from the first symptoms for someone to be diagnosed with amyotrophic lateral sclerosis (ALS)
- The most important thing is to get to a neurologist as soon as possible as most neurologists can make this diagnosis based on patient history and examination
- Recent phase I/II trials showed promising results for the compounds tofersen and AMX0035 in treating patients with ALS
The mission of the Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital is to find cures for people with amyotrophic lateral sclerosis (ALS). Merit E. Cudkowicz, MD, MSc, chief of the Department of Neurology and director of the Sean M. Healey & AMG Center for ALS, discusses the importance of accelerating diagnoses for ALS and the new advances in therapeutic development to treat this disease.
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At the Healey Center at Massachusetts General Hospital, we care for over 600 people with ALS. Sometimes the diagnosis can be difficult and it takes on average 12 months from the first symptoms someone has to when they are told the diagnosis, and in our opinion, that's way too long. So one of the things we are working on in the Healey Center is how to accelerate that so we can get treatments to people sooner. The diagnosis is made by a neurologist typically, and it's based on the history, the exam, and some tests called EMG or electromyography. But the most important thing is to get to a neurologist fast because most neurologists can make this diagnosis, based on the history and the examination.
One particular trial that we reported on this summer in the New England Journal of Medicine, was of a drug called tofersen. This is a gene therapy for a familial form of ALS caused by mutations in the gene called SOD1. This drug blocks the formation of the mutant protein, and in that phase I/II study, we were able to show that the drug did what it was supposed to do, it lowered SOD1 levels, and it lowered a biomarker called neurofilament of nerve damage. And based on those results, the study went quickly into phase III or what we call a pivotal final study, and we're hoping for those results in 2021. But there are so many more treatments out there for, not just for the familial form, but also the non-familial form, called sporadic ALS.
One example is a drug called tamoxifen. This is a drug for people with breast cancer but has been repurposed for people with ALS because it can block pathways that cause motor neuron death. And we had a study that showed some positive results for that.
We recently also reported this summer of 2021, a positive trial result with a drug called AMX 035. This is a combination drug of two actually, repurposed drugs called Tudca and buphenyl. And the idea here was that they each targeted an important pathway in ALS. The tudca targets the mitochondria which are the energy-producing parts of the cells that aren't working well in people with ALS, and the buphenyl targets how proteins are fixed if they are made incorrectly, called ER stress. And we know in the laboratory that the two drugs act synergistically, meaning that they each protect motor neurons alone, but they are much better together, and in our trial, in patients with ALS, we showed that the combination slowed the loss of function by 25%. That drug will now start to go under FDA and EMEA review to see whether the data is enough for marketing approval. But that's a huge advance for people with ALS.
The mission of the Healey Center at Massachusetts General Hospital is to find cures for people with ALS.
Learn more about the Sean M. Healey & AMG Center for ALS
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