An American research team has discovered a new promising treatment for “Charcot” disease.
Also known as Amyotrophic Lateral Sclerosis (ALS), Charcot disease is a deadly condition that affects approximately 30,000 people in the United States.
This disease causes gradual muscle paralysis that forces the patient to remain confined to their home, often leading to death within less than 5 years of diagnosis, and up until now has no known effective treatments.
In a recent study conducted on mice, the research team explored a method to target and stabilise the protein that protects cells from toxic elements derived from food or oxygen inhalation.
In many cases, genetic mutations in the gene that produces the relevant protein are the causative factor for “Charcot” disease. However, these mutations can also occur even without a family history associated with the disease.
Mutations in this gene, called “SOD1” (Superoxide Dismutase 1), lead to a disruption in the protein assembly process, preventing it from performing its role and disrupting cellular mechanisms in a broad sense, resulting in the formation of protein clumps associated with other diseases such as Alzheimer’s and Parkinson’s.
The study’s lead, Jeffrey Agar, who discovered and tested this tool with his team after 12 years of research, explained that the new treatment is a “molecular stabiliser” that acts as a “pivot” and forces the protein to remain in its correct form.
The molecule was tested on genetically modified mice to become susceptible to the disease. The researchers found that not only did it restore protein functions, but it also prevented any secondary toxic effects.
The molecule’s effectiveness was also demonstrated in rats and dogs, successfully stabilising 90% of “SOD1” proteins in blood cells and 60 to 70% in brain cells.
The researchers hope to obtain approval to conduct clinical trials on humans.
Despite the lack of an effective treatment to protect nerves in various patients, the US authorities granted pre-approval for the sale of “Calzudy” (from “Biogen” laboratories) in April 2023, targeting only specific forms of the disease.
