Charcot disease: A promising new treatment unveiled

Finally a cure for this deadly disease? An American study conducted on mice on Tuesday unveiled a promising new treatment for Charcot disease, which currently has no known effective cure.

Also known as amyotrophic lateral sclerosis (ALS), it affects approximately 30,000 people in the United States. It causes progressive paralysis of the muscles, creates a state of incarceration in the patient and usually causes death in less than five years. In a study published by the scientific journal PLOS Biology, a team of researchers say they have studied a way to target and stabilize proteins that protect cells from toxins from food or inhaled oxygen.

In many cases, an inherited mutation in the gene that produces the protein in question is the cause of Charcot disease. But this mutation can occur even without a family history. Mutations in this gene, SOD1, lead to impaired assembly of the protein that prevents it from carrying out its functions and disrupts the cellular machinery in a broader sense, leading to clumping of proteins that are, among other things, associated with cancer. Alzheimer’s and Parkinson’s.

Restoration of protein functions

The new treatment is a “molecular stabilizer” that acts like a “stitch” and forces the protein to stay in its proper configuration, explains study director Jeffrey Agar, who discovered and tested it after 12 years of research with his team. The molecule was tested on mice – genetically modified so that they carry the disease – and the researchers found that it not only restored the protein’s functions, but also prevented any secondary toxic effects.

Its safety has also been tested on rats and dogs. The treatment successfully stabilized 90% of SOD1 protein in blood cells and 60-70% in brain cells. The researchers now hope to get approval to proceed to clinical trials in humans.

Although there is currently no effective neuroprotective treatment for all patients, an advanced marketing authorization was issued in the United States in April 2023 for a drug (Clsody from Biogen Laboratories) targeting certain diseases.