Leigh syndrome, a severe neurological disorder that occurs in approximately 1 in 40,000 children, usually affects kids in their first year of life. The disease causes progressive brain damage and muscle weakness, and cause of death is usually due to respiratory failure. Unfortunately, there is no treatment for Leigh disease, and children with this disease rarely live past their 6th or 7th birthdays.
Mouse models of human diseases give researchers a way to look at potential treatments or therapies. Rapamycin, a transplant anti-rejection drug, unexpectedly showed some promising results with mouse models of Leigh disease! The average lifespan of this mouse model is 50 days, but after daily rapamycin injections, these treated mice lived over twice as long as untreated mice! Coordination and breathing were substantially improved as well.
There are far fewer drugs available for pediatric diseases than there are for adult illnesses- and this could be a great breakthrough! After determining that this drug works to alleviate symptoms of the disease in mice, researchers can now focus on the mechanisms involved in order to develop a drug treatment regimen that would be appropriate for human patients. A benefit is that rapamycin is already approved for use in humans, so a treatment might not be too far off. Let’s hope that this works!