895 A Gene Therapy for DMD
Welcome to Medical Discovery News. I’m Dr. David Niesel
And I’m Dr. Norbert Herzog
There are a number of genetic disorders that interfere with normal muscle function. Duchenne’s Muscular Dystrophy or DMD is one of them.
A genetic mutation stops a functional dystrophin protein from being made. It’s a very large protein that helps to connect structures within muscle cells called the cytoskeleton to proteins that form the extracellular matrix outside the cell.
Without a functional dystrophin, when muscle cells contract, they become damaged and eventually die. The muscles eventually wastes away and fatty or fibrous tissues take their place.
DMD primarily affects boys and symptoms show around three to six years old. They start to have trouble walking and running, eventually breathing, and heart issues appear. Patients often die in their twenties and thirties since there’s no cure.
But the FDA just approved the first gene therapy for DMD called ELEVIDYS. Since the dystrophin gene is very large, using a virus to deliver it into cells hasn’t been possible.
Instead, ELEVIDYS uses an adeno-associated virus called AAVrh-seventy-four engineered to carry the genetic information to cells so that they can produce micro-dystrophin. These are parts of the protein vital to its function.
Boys given ELEVIDYS produce these micro-dystrophin and even though it’s just one-third of the protein it should still have some of its normal function. They don’t know yet whether it will restore partial function in muscle cells and protect them from damage.
If it does, boys would be able to live more active and maybe even longer lives.
We are Drs. David Niesel and Norbert Herzog, at UTMB and Quinnipiac University, where biomedical discoveries shape the future of medicine. For much more and our disclaimer go to medicaldiscoverynews.com or subscribe to our podcast. Sign up for expanded print episodes at www.illuminascicom.com