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NZCR has been involved in the research of a potential new therapy for Motor Neurone Disease, also known as amyotrophic-lateral sclerosis (ALS). This debilitating condition is caused by death of the nerves that carry messages from the brain to people’s muscles and can affect the ability to move, talk and even breathe. This condition is manifested by a mutation in a specific part of genetic code leading to the production of a toxic form of the protein SOD1, which kills motor neurones.
A trial of 108 people, funded by pharmaceutical company Biogen, used an innovative type of medicine called gene silencing. The investigated drug Tofersen has been proven to effectively mutes the defective DNA so less SOD1 is produced.
These mutations cause about 2% of MND cases but one in five of those that run in families. This development will offer improved quality of life in the 2% of ALS patients who have this genetic variation.
The results were a “real moment of hope” and the start of a “new era” in which we can expect progress in other forms of MND. In the early stages, the researchers say, the drug is stopping further damage. It cannot lead to the formation of new motor neurones and the remaining ones may be taking a year to recover and form new connections with muscle tissue.
“It may take time for people to heal from the damage that has already been caused,” said Dr Timothy Miller, the principal investigator, at Washington University.
“The vast majority of people living with ALS experience a relentlessly progressive downhill course, so the stabilisation of function is truly remarkable.”
https://www.bbc.com/news/health-62851186
