New research developed from studies at UMass Chan Medical School in Worcester has the potential to revolutionize treatment options for people with amyotrophic lateral sclerosis (ALS).
In research published Thursday in the journal Nature Medicine, Dr. Robert H. Brown Jr., Jonathan Watts, Ph.D., and others at UMass Chan report how they suppressed a mutated form of an ALS gene in a single-patient pilot study. The gene, C9ORF72, is the most common cause of familial ALS and familial frontotemporal dementia.
Other researchers have documented that the gene can be suppressed in cells, however, this case is the first documented on a person with ALS.
“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,” Brown, the lead author of the report, said in a statement. “The next step is to launch a multi-person clinical trial to see if this treatment can slow progression of the disease.”
During the trial, researchers found the subject’s ALS functional score rating and other measures of impact were largely stable or even improved slightly.
The patient had been experiencing weakness in the legs and feet before treatment, which showed no neurological or medically adverse effects from the treatment.
Researchers were able to eliminate the disease-causing protein from the cell, which scientists believe could potentially stop and even reverse disease progression.
According to UMass Chan, four similar therapies have received approval from the U.S. Food and Drug Administration. Three are for the treatment of Duchenne muscular dystrophy and one is for spinal muscular atrophy.
ALS is a progressive neurodegenerative disorder that weakens muscles and impacts motor skills. Roughly 10% of those diagnosed with ALS inherit the disorder, which is caused by a genetic mutation in a person’s DNA.
It is not fully understood why motor neurons die in ALS, however, the mutations of the gene targeted in the study at UMass Chan account for 40% of familial cases of ALS and 10% of non-familial cases.
These mutations also cause about 25% of familial cases of FTD.
An estimated 6,000 people in the U.S. are diagnosed with ALS each year, UMass Chan said.
Beyond research performed in Worcester, Oxford University Medical School in the United Kingdom also participated.
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.
Related Content:
- After historic donation, UMass Chan Medical School in Worcester plans to hire 150 researchers with up to $2,000 sign-on bonus
- ‘Beyond a transaction’: How UMass Medical School in Worcester courted the Morningside Foundation, leading to a $175 million gift
- UMass Medical School in Worcester to be renamed following ‘history-making’ donation of $175 million from Morningside Foundation