ALS is a neurodegenerative disease characterized by the progressive loss of motor neurons — the nerve cells that control movement. ALS is progressive, meaning that symptoms worsen over time. Although there is currently no cure, there are treatments available to slow ALS progression and improve patient’s quality of life. There are also a number of experimental treatments that are being developed by researchers.
How does uniQure’s gene therapy work?
To make a protein, cells first make a temporary copy of the gene that encodes for that protein. This copy is called messenger RNA or mRNA and is used by the cell to make the protein. In ALS, the most common disease-causing mutations occur in a gene called C9orf72. The mutations cause C9orf72 mRNA to build up inside cells in aggregates and sequester proteins, which eventually causes cell death.
uniQure’s gene therapy contains two very small RNA pieces (called microRNA or miRNA) that are complementary to the mutant C9orf72 mRNA. The miRNAs bind to the mutated mRNA and target it for degradation before it can aggregate.
A non-infectious virus called an adeno-associated virus, which cannot replicate or cause illness, is used to deliver the therapy to the cell.
uniQure’s gene therapy in research
The results from two preclinical studies about the potential role of uniQure’s gene therapy in treating ALS were published in the journal Molecular Therapy-Nucleic Acids.
The first study demonstrated that the treatment reduced levels of mutated C9orf72 mRNA in cells grown in the laboratory. Next, the researchers treated nerve cells (derived from patients) with the gene therapy, which reduced the formation of toxic mRNA aggregates within the cells.
The second study confirmed that the treatment is able to reduce the accumulation of mutated C9orf72 mRNA. The authors then validated the treatment in a mouse model of ALS that carries the human form of the disease-causing C9orf72 gene. Following treatment, a reduction in faulty C9orf72 mRNA was found in the mouse brain.
According to uniQure, these findings support pursuing the approach as a therapy for ALS.
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