By Rikki Laser
The University of Iowa Hospitals & Clinics and the Muscular Dystrophy Association of Iowa care center were selected as one of few schools to participate in a large-scale clinical trial for one of the first true treatments of DMD.
Duchenne muscular dystrophy — a rare muscular disease — causes muscle weakness that forces one into a wheelchair and eventually death.
“It’s a progressive disease, so you continue to lose muscle over time and get weaker and weaker,” Katherine Mathews said, one of the trial’s two principal investigators. “Without treatment, boys go into a wheelchair between ages eight and twelve, and they may develop problems with breathing and heart function in young adulthood. There is no specific treatment for it.”
Sarepta Therapeutics, a pharmaceutical company based in Cambridge, Massachusetts, funded and oversaw the process.
“[Sarepta] has contracts with a variety of sites around the country for enrolling children in the trial. We play a major role in a number of ongoing trials,” Mathews said. “We do almost all the muscle biopsies done on all the boys, regardless of where they live. We do a lot of the physical examinations and the physical therapy examinations.”
Mathews noted that the disease affects 1 in 3,000 to 5,000 births.
In 2014, the UI was one of a few institutes, which includes Colorado Department of Health and Environment and the New York State Department of Health, involved that were part of the Centers for Disease Control & Prevention program aimed at treating muscular dystrophy.
The program, known as the Muscular Dystrophy Surveillance, Tracking, and Research Network program, is the only research program designed to collect health information on everyone with muscular dystrophy living in specific areas of the country.
Mathews said DMD — a specific type of muscular dystrophy — is an X-linked recessive disease, typically presenting weakness before the age of five. The disease affects boys the greater majority of the time because they only have one X chromosome; girls have two, one of which can make up for the other’s mutation.
The release also covered the medication’s new Food and Drug Administration approval.
“The reason for the press releases is that this drug has been under consideration in the FDA for a number of months,” Mathews said. “They gave a preliminary approval for the drug, which means that you can now prescribe it but the FDA reserves the right to revoke it after ongoing trials to see if it’s really effective.”
The FDA found the medication to be safe and concluded that there was “enough evidence to suggest that it might be helpful, that it was useful to go ahead and make it available,” she said.
The drug is given through an IV therapy once a week, which, according to Carrie Stephan, clinical research specialist at the Muscular Dystrophy Association of Iowa, may be hard on the family.
“There’s a lot of excitement among families, a kind of ‘oh, my gosh, what does this mean?’ ” she said. “But they still have to figure out how to get an infusion every week for potentially the rest of the child’s life, so the impact of the family unit is huge.”
The medication, however beneficial, still may not be accessible to families because of its high cost, Mathews said.
“The drug sponsor is opening a support program for people who are uninsured or underinsured,” Stephan said. “There is still a concern for families because of deductibles and in terms of what their policy will cover.”
Family Support and Clinical Care coordinator Stephanie Kollasch’s family has been affected since she was 5. Kollasch works at the Muscular Dystrophy Association of Iowa care center.
“My brother Dan was diagnosed at the age of 2. … [The disease] has affected every aspect of our family life,” she said in an email to The Daily Iowan.
The medication treats one specific kind of mutation, one that Kollasch’s brother unfortunately does not have.
“[The mutation] is on a large gene with a lot of exons — the parts of the gene that go to make the proteins — and it stops the gene from making proteins. It can be fixed by making the RNA skip one exon,” Mathews said. “But it can only be given to about 13 percent of boys who have Duchenne Muscular Dystrophy.”
Matthews noted that although the medication does not work with every form, the new medication does help others towards FDA approval.
“While this drug only treats some, there are a lot of other drugs that are being investigated to see if they will also change the course of their disease,” she said. “Part of the excitement about this approval is that it makes it more promising for other drug companies who want to test their drugs. If the FDA is willing to approve drugs without having a lot of data, then that makes drug companies optimistic that they’ll be able to get their drugs to market, too.”
Even though the treatment cannot help her brother, Kollasch remains optimistic.
“This medication is hope. Whether this medication can be used for a family or not, it is hope for a future free of this disease and all neuromuscular diseases,” she said. “This drug opens the door to more funding for research, greater interest and awareness of these diseases, and more therapies to be developed.”
