Like other children with Hunter syndrome, Cole is deficient in an enzyme required to break down certain molecules. Over time, toxins accumulate, and the genetic disorder ravages children’s organs, including their heart — and in many cases, their brain, leading to dementia-like symptoms. The condition, also called mucopolysaccharidosis type II, or MPS II, affects about 500 people in the U.S., nearly all of them boys.
Experts believe the newly approved drug, an intravenous enzyme replacement therapy manufactured by Denali Therapeutics, will be a game changer — especially because the current standard of care slows only the physical aspects of the illness. Denali’s drug also targets cognitive decline.
The new drug will not reverse regressions that have already occurred. But it could extend children’s lives and prevent many symptoms from showing up for those who receive it early.
Dr. Joseph Muenzer, an expert in Hunter syndrome and related rare diseases.Allison M. DonnellyKeep reading this article on NBC News.
