Researchers at the University of Massachusetts Chan Medical School say they have safely used injections to suppress a mutant gene linked to amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease.The mutant gene is known as C9ORF72. It is linked to 40 percent of familial cases of ALS, as well as about 10 percent of non-familial cases. Additionally, the mutated gene is also linked to familial frontotemporal dementia.In a pilot study, a synthetic chain of chemically modified nucleotides was injected into the spinal canal of one human patient. The UMass Chan team, led by Dr. Robert Brown Jr. and Dr. Jonathan Watts, found the treatment led to a significant reduction of ALS-related neurotoxins.”While other teams have documented that this gene can be suppressed in cells in culture, this is the first time this type of antisense oligonucleotide treatment for C9ORF72 ALS has been demonstrated in a person with ALS,” the team wrote in Nature Medicine. “The results are very encouraging. It means this is a viable approach to suppressing the mutant C9ORF72 protein that causes most cases of familial ALS. The next step is to launch a multi-person clinical trial to see if this treatment can slow progression of the disease.”Similar therapies for the treatment of Duchenne muscular dystrophy and for spinal muscular atrophy have been approved by the U.S. Food and Drug Administration. “Our findings strongly encourage the view that suppressing the expression of mutant C9ORF72 is possible and should be explored further for clinical benefit,” Brown wrote. UMass said the study was funded by the Angel Fund for ALS Research, with additional support from the National Institutes of Health, ALS Finding a Cure, ALS ONE, the Max Rosenfeld ALS Research Fund and the Cellucci Fund for ALS Research.
Researchers at the University of Massachusetts Chan Medical School say they have safely used injections to suppress a mutant gene linked to amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease.
The mutant gene is known as C9ORF72. It is linked to 40 percent of familial cases of ALS, as well as about 10 percent of non-familial cases.
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Additionally, the mutated gene is also linked to familial frontotemporal dementia.
In a pilot study, a synthetic chain of chemically modified nucleotides was injected into the spinal canal of one human patient. The UMass Chan team, led by Dr. Robert Brown Jr. and Dr. Jonathan Watts, found the treatment led to a significant reduction of ALS-related neurotoxins.
“While other teams have documented that this gene can be suppressed in cells in culture, this is the first time this type of antisense oligonucleotide treatment for C9ORF72 ALS has been demonstrated in a person with ALS,” the team wrote in Nature Medicine. “The results are very encouraging. It means this is a viable approach to suppressing the mutant C9ORF72 protein that causes most cases of familial ALS. The next step is to launch a multi-person clinical trial to see if this treatment can slow progression of the disease.”
Similar therapies for the treatment of Duchenne muscular dystrophy and for spinal muscular atrophy have been approved by the U.S. Food and Drug Administration.
“Our findings strongly encourage the view that suppressing the expression of mutant C9ORF72 is possible and should be explored further for clinical benefit,” Brown wrote.
UMass said the study was funded by the Angel Fund for ALS Research, with additional support from the National Institutes of Health, ALS Finding a Cure, ALS ONE, the Max Rosenfeld ALS Research Fund and the Cellucci Fund for ALS Research.