Gyula Acsadi is an expert in three of the world’s most expensive rare illnesses to treat: Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease.
Acsadi, head of neurology and rehabilitation at Connecticut Children’s Medical Center in Hartford, said he’s convinced that new therapies for these inherited neuromuscular disorders are already paying off.
“The last year or so was an amazing year to treat rare diseases,” he said. “We got approval for two important drugs for SMA and Duchenne. These drugs are hugely expensive, but they are effective.”
Acsadi, speaking Feb. 28 at Connecticut Rare Disease Day in Hartford, was referring to the U.S. Food and Drug Administration’s September 2016 approval of Exondys 51 (eteplirsen) to treat the 13 percent of DMD children who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, and the agency’s December 2016 approval of the injectable therapy Spinraza (nusinersen) for SMA.
While Exondys 51’s manufacturer, Sarepta Therapeutics, says the treatment costs $300,000 per year per child — based on a child’s weight — the actual price can be much higher, rising to an average of $750,000 each, according to an independent analysis cited by The New York Times.
Likewise, Biogen’s Spinraza costs $750,000 for the first year of treatment, falling to $375,000 in subsequent years for the rest of a patient’s life. And an enzyme replacement therapy for Pompe, which President Donald Trump specifically praised in his Feb. 28 State of the Union address, costs $300,000 a year.
Minnesota begins SMA newborn screening program
Among the SMA children Acsadi treats are a brother and sister, both of whom have SMA type 2. He said that before going on Spinraza, the boy, 7, “was in and out of hospitals,” but since then, he has not been hospitalized even once.
“His little sister, who was diagnosed at birth, started getting the medication at four months of age,” Acsadi told BioNews Services, publisher of this website, on the sidelines of the Rare Disease Day conference. “Now she’s 1 year old and able to stand and start walking, which was impossible to imagine.”
By coincidence, Acsadi’s presentation came the day before Minnesota’s Department of Health formally began universal screening of all newborn babies for SMA — the leading genetic cause of early childhood death in the United States. Minnesota, home to the Mayo Clinic, already has one of the nation’s most comprehensive newborn screening programs.
With the March 1 addition of SMA, Minnesota now screens for 61 conditions — including all those on the U.S. Secretary of Health and Human Services’ recommended uniform screening panel. That makes Minnesota only the second state in the nation, after Missouri, to screen newborns for SMA. Missouri began its own SMA screening program in July 2017.
Acsadi and other advocates at the Hartford event urged Connecticut lawmakers to approve a similar program.
“Nationwide, only two states have approved neonatal screening for SMA,” Acsadi said. “The reason so far, is that there was no treatment, so people were reluctant to screen for something you cannot treat. But now there’s an effective treatment, so it’s time to screen for this disease.”
He added: “This new treatment works best when you start it shortly after birth, even before symptoms develop. By the time the disease manifests itself, the patient has already lost a whole bunch of motor neurons.”
Hope is on the way, Acsadi says
Acsadi, a native of Hungary, has a PhD from the Hungarian Academy of Sciences in Budapest. He’s been researching gene therapy for both SMA and Duchenne for several decades. Before coming to Connecticut, he did residencies and research fellowships at the Children’s Hospital of Michigan, the University of Wisconsin in Madison, and the Montreal Neurological Institute at McGill University.
He’s also a member of the Scientific Review Committee of the Child Neurology Society, a fellow of the American Academy of Neurology, and a member of the International Child Neurology Association. In addition, Acsadi serves on the editorial board of Pediatric Neurology.
“I think it’s exciting that the gene causing SMA was discovered in 1995, and that it took some 20 years, but now the research has brought an effective treatment for SMA,” he said. “This is similar to Duchenne, whose gene was discovered in 1987. And now, after 30 years, we finally have an FDA-approved treatment for some forms of Duchenne.”
Acsadi’s Farmington clinic is part of the MDA Care Center, a program sponsored by the Muscular Dystrophy Association and Connecticut Children’s Medical Center.
“People may get tired just hearing about these diseases — but now we can give them hope that treatments are coming up for these rare disorders,” Acsadi told us. “I think the Orphan Drug Act definitely helped to promote research and development, as well as fast-tracking clinical trials in these disorders. Over the last four or five years, the speed of getting things into clinical trials has really improved, and genetic engineering is expanding very quickly.”