SMA Expert Arthur Burghes, Speaking in Poland

Underscoring the enormous progress researchers have made understanding spinal muscular atrophy, Dr. Arthur Burghes called for newborn screening for the incurable degenerative disease and the urgent approval of new therapies for it.

Burghes’ remarks came in a keynote lecture at today’s start of the International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland. The Jan. 25-27 event is the first in Europe dedicated specifically to the disorder, which occurs in roughly one in every 10,000 births.

Burghes, a professor of biological chemistry and pharmacology at Ohio State University College of Medicine, spoke on the subject “Where Have We Come, Where Do We Go?” The SMA expert, who has a PhD from the University of London and did post-doctoral work at the University of Toronto, has spent 30 years studying the disorder.

“During the time I’ve been researching SMA, we’ve gone from not knowing the gene [underlying the condition], to identifying the gene, to having mice models of the disease, to having large animal models, to actually having therapies,” Burghes told SMA News Today in phone interview Jan. 18 from his lab in Columbus, Ohio. “When those therapeutics are given early in the disease course or even before symptoms occur, they have a major effect on the progression of the disease.”


EU Approval of Spinraza a Turning Point

The conference that Burghes and 400 other SMA experts are attending comes six months after the European Union approved Biogen’s Spinraza (nusinersen) for SMA types 1, 2 and 3.

Type 1, the most severe form of the disease, is usually diagnosed at birth or within the first six months of life. It is caused by mutations of the SMN1 gene that lead to a shortage of the survival motor neuron, or SMN, protein. Spinraza works by altering SMN2, a gene nearly identical to SMN1 that in healthy people generates only a small amount of SMN. The drug’s aim is to cause SMN2 to produce enough functional SMN protein to increase the survival of motor neurons, nerve cells that control movement.

“What pathway is critical for the destruction of motor neurons, or is it a combination of pathways with SMN functioning? What do those pathways each contribute?” Burghes asked. “We don’t really know the answers to these questions, but what’s critical in answering them is to have suppressors that suppress each of those specific pathways and have them tested in mice, so we can learn how the actual biochemistry of the disease works.”

He added that “there are definitely modifiers of the SMA phenotype. Can these modifiers be identified and used in combination with therapies already out there? We don’t know.”

More Approved Therapies Bring Prices Down

Spinraza, which is delivered by injection, has a list price of $125,000 per dose, so the first year’s six injections cost $750,000. This makes it one of the world’s most expensive medications.

Last August, Switzerland’s Roche began enrolling infants with SMA type 1 in a Phase 2 study of RO7034067, a therapy that targets SMN2. The move came after positive early results in a similar study of the compound in older children with type 2 and 3 SMA.

“Spinraza, gene therapy and the Roche compound all induce [trigger the production of] SMN. We need all three of these therapies approved,” Burghes said. “Why? Because it allows competition in the marketplace. If these therapies have to compete against each other, the price will be immediately reduced. So one of the first things we need to do is push forward these clinical studies.”

He explained that “we’ve developed treatments that work very well when given early. They work less well when given in symptomatic cases. That means they don’t have as dramatic an effect, and we would all like the most dramatic effect. So which therapies can you put together to get a more dramatic effect, and how should those go together?”

Full text: https://smanewstoday.com/2018/01/25/sma-expert-arthur-burghes-in-a-speech-in-poland-urges-universal-newborn-screening?utm_content=buffere6ae7&utm_medium=organic+social&utm_source=facebook.com&utm_campaign=buffer

AAN forms Therapy pricing panel to help neurologists treat SMA and others diseases

As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal muscular atrophy (SMA) — neurologists are finding themselves in the increasingly uncomfortable position of deciding which patients are most likely to benefit, and how they can help families pay for such treatments.

In response, the Minneapolis-based American Academy of Neurology (AAN) has formed a Neurology Drug Pricing Task Force to make recommendations and provide guidance to AAN members feeling overwhelmed at these tasks.

Its goal, said Dr. Nicholas E. Johnson, a pediatric neurologist and assistant professor at the University of Utah who heads the effort, is to try to define a workable ground between “what the [treatment’s] label says” about who might receive it, and “what the insurance company says” about whom it will cover.

“It’s nearly a full-time effort for a single staff person to work through the insurance approvals,” Johnson told SMA News Today in a phone interview from Salt Lake City, where he also has a practice. “This is a national problem from the physician’s side, because these drugs provide some risk in that they have to be administered through a spinal tap, and because these drugs carry such a high cost.”
Nicholas Johnson
Nicholas Johnson, MD. (Courtesy University of Utah)

The AAN’s 18-member task force includes 16 neurologists with expertise in practice guidelines, medical economics and ethics, along with two advanced practice providers. It expects to offer guidelines in early 2018.

Spinraza received approval from the U.S. Food and Drug Administration (FDA) in December 2016 as the first disease-modifying treatment for all forms of SMA. Manufactured by Biogen, it has shown highly promising results in clinical trials in young children, but carries a high price tag. Treatment costs an average of $750,000 for the first year and $375,000 for every year after that.

“We’ve been trying to get this medicine for a few adults with SMA and have been denied coverage,” Johnson said. “Thankfully, Biogen’s Patient Assistance Program has stepped in to help these patients out. In the long run, the AAN is there to provide advocacy for both neurologists and the patients they care for, and to make sure patients are provided medications that have disease-modifying, life-altering effects in a sustainable fashion.”

Normally, doctors have some leeway in using new medications in various settings and on a variety of patients, Johnson said. But in Spinraza’s case, “even though it was approved for all ages and all types of SMA, there’s very limited data in adults who have SMA, so this is a real challenge for providers,” he added.

The task force hasn’t yet offered any recommendations, and those made will require AAN leadership approval before being publicized. Besides Spinraza, therapies it will look at include Brineura (cerliponase alfa) for Batten disease, estimated to cost $702,000 a year, and Exondys 51 (eteplirsen) for Duchenne muscular dystrophy, which costs an estimated $300,000 annually.

“Neurologists care for a number of patients with rare diseases, and many of them have a lot of the same challenges as SMA,” Johnson said. “Our goal is to evaluate the environment as it stands right now to essentially provide some guidance for neurologists, and who to prescribe medications for. We don’t really have a good sense of how nusinersen works in the adult population. Normally, a neurologist would start by prescribing the medication and see how it works.”

Johnson compared the current situation to 2006, when the FDA approved an enzyme replacement therapy to treat Pompe disease, an extremely rare hereditary metabolic disorder that strikes roughly one in 40,000 U.S. newborns a year.

“Clinical trials were conducted for the most severe form of the condition, and the drug was approved for all ages. Providers had the ability to prescribe for adults, and they saw over time that it had less benefit,” he said. “But that type of post-approval process is now limited. So what the task force seeks to do is provide guidance and recommendations for those providers who are stuck between what the label says and what the insurance company says.”

Johnson said his Salt Lake City clinic — which covers Utah as well as Idaho, Nevada, Wyoming, and western Colorado — has 130 SMA patients, half of whom are adults.

“Even though it’s a rare disease, there are quite a few patients out there with SMA,” he said. “Utah’s state Medicaid budget is around $100 million a year. If you consider the costs of this drug for our 130 SMA patients, it would easily dwarf the rest of the budget. So we regard this as a very urgent issue.”

Text from: https://smanewstoday.com/2017/08/17/sma-therapies-aan-forms-drug-pricing-task-force-to-help-neurologists-sort-out-thorny-insurance-issues/

Spinraza Timeline

So has been evolution of new drug for SMA. I hope that this was happy and hope for many people with SMA.

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Happy New Year for everyone

Happy New Year for everyone!!!!!!!!!!

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I believe in miracle...2016 approved the drug Spinraza for the treatment of spinal muscular atrophy (SMA).

Approved the drug Spinraza for the treatment of SMA

The FDA on December 23, 2016 approved the drug Spinraza for the treatment of spinal muscular atrophy (SMA). Dr. Tom Crawford, Director of the MDA Care Center at Johns Hopkins Hospital in Baltimore, Maryland, talks about the significance of the approval. For more information, go to mda.org.

Video from: https://www.youtube.com/watch?v=B0ayLo27Ros