AKRON, Ohio (WJW) — Vinnie Demando’s parents say he didn’t seem to fully crawl until he was a year old, and he didn’t walk until he was about fifteen months old.
As he grew, he had trouble keeping up with other kids.
“He couldn’t really jump and had trouble getting up off the floor that things like,” said Jill Demando.
In 2021, the family received a positive diagnosis of Duchenne Muscular Dystrophy.
“Duchenne muscular dystrophy is the most severe form of muscular dystrophy, it primarily affects boys because it’s carried on the X-chromosome,” said Dr. Kathryh Mosher of Akron Children’s Hospital, who has been seeing Vinnie since early in his diagnosis.
“Boys have a progressive loss of strength and eventually use ambulation typically around the age of 12, and from there they have loss of cardiac function, respiratory function, and life expectancy is greatly diminished,” she said.
On Friday, Vinnie became the first patient in Ohio, and perhaps only the second in the world, to receive a very promising new therapy, administered at Akron Children’s Hospital.
Until now the use of steroids has been the most effective treatment but Mosher says that comes with some challenging side effects.
On June 22nd, however, the FDA announced approval of a new drug called Elevidys, a medication for which clinical trials conducted in Ohio showed extremely promising results.
“This is the most exciting breakthrough that we have had in the history of Duchenne muscular dystrophy and I think there’s a tremendous amount of hope and excitement around this treatment,” said Mosher.
The medication is said to help patients regain a protein called dystrophin.
“Dystrophin is a critical protein for the integrity of the muscle. It actually acts as a shock absorber and protects our muscles from shear forces that occur during muscle contraction,” said Mosher.
“What they discovered is that the boys that were treated had significant improvement in some of their (dystrophin) scores,” she added. “What it means is that these boys had better ability to walk and even do some higher level gross motor skills like running and jumping than we would see in untreated boys of the same age.”
The new medication has only been approved for patients ages 4 and 5 who have a genetically confirmed diagnosis of Duchenne muscular dystrophy.
There are several other qualifying factors.
It also comes at a steep price tag.
The one-time dose is currently $3.2 million.
Vinnie’s mother says her insurance agreed to cover the cost.
“They did come back and tell us that my employer had to approve the cost for us to move forward so we started there and I sent some emails and opened up a claim for that and they actually gave us an approval in less than 24 hours,” said Jill Demando.
“The hope is that we will see him have improvements in his energy and his endurance, improvements in the quality of his walking with less difficulty with weakness, we are hoping that perhaps he can run and jump,” said Mosher.
“We did have one patient who participated in the clinical trials, and that patient looks amazing so we are really really excited to see what this can do for Vinny,” she added.
The treatment is not a cure, and researchers still cannot say how long the effects will last.
“We don’t know how long the effect will last or if there would be a possibility in the future there would be additional types of treatments,” said Mosher. “We do believe the answer to Duchenne is going to be a multi-pronged approach and that most patients will be on more than one treatment for their disease.”
But results from the trials are remarkable, and with this new breakthrough therapy, the hopes for children like Vinnie are higher than they have ever been.
“I would like to see him benefit from the benefits of it with running, playing, but mostly the heart and the lungs is what I look for because with Duchenne that’s the leading cause of complications,” said Jill Demando. “I do hope that you know other parents with older children or that might not qualify right now that we are able to get there in the future.”
