The condition of a man with a rare form of motor neuron disease has significantly improved following experimental RNA therapy. He is the first person to receive a targeted drug specifically designed to counteract the genetic mutation causing his disease, and one year after starting treatment, he continues to work as a doctor.
According to a study published in the journal Med, the result marks a potentially new stage in the treatment of neurodegenerative diseases. The patient has a slowly progressive form of amyotrophic lateral sclerosis (ALS), caused by a rare mutation in the CHCHD10 gene. This mutation damages the mitochondria inside cells and eventually leads to the death of motor neurons.
To treat the patient, scientists used so-called antisense oligonucleotide therapy. Unlike traditional gene therapy, which directly modifies a person’s genes, this approach uses small fragments of genetic material to target the faulty RNA and block the production of toxic proteins in the body.
The patient received several doses of the drug, 50 and 75 milligrams, into his spinal cord in 2024–2025. One year after treatment began, the level of a key biomarker of damaged neurons in his blood had fallen to normal levels. This suggests that the drug halted the process of cell death in the brain. The patient’s motor functions also improved, while his respiratory and cognitive measures remained stable. Notably, the medication caused no serious side effects.
“This is a game-changer for a small subset of patients,” says Mayo Clinic neurologist and study co-author Bjorn Oskarsson.
According to Oskarsson, developing similar genetic medicines usually takes decades. In this case, however, it took just three years to develop the drug and advance it to clinical trials. Oskarsson’s team has already administered the drug to eight additional patients as part of a clinical trial.
Neurologist Steve Vucic of the University of Sydney in Australia described the results as an interesting first step, while stressing that it is still too early to say that the disease has been completely halted. Specialists hope that similar approaches could eventually be used to successfully treat different forms of ALS, as well as other diseases caused by the same mutation.
