For Turlock boy, orphan drug offers hope for rare disease — at high price

Feb. 20--With a slip of a needle into his spinal fluid, Charleston "Cash" Goeppert became one of the first children in the country to receive a new drug that could help slow a rare muscular condition that renders kids as limp as a rag doll.

At Sutter Children's Center in Sacramento this week, the 7-year-old was given an injection of Spinraza, the first drug approved in the U.S. to treat spinal muscular atrophy, or SMA. It's a devastating, inherited genetic defect that leaves infants with muscles too weak to lift their head or hands or even breathe. The most common but severe type is often fatal.

For Cash's parents, Turlock residents Ashley and Cameron Goeppert, Spinraza is a shot of hope. "We don't want to have huge expectations," said his mother, 33. "But to stop progression would be enough ... an absolute miracle."

Diagnosed at birth with the neuromuscular disease, Cash cannot eat, talk, move or take a single breath unaided.

SMA, sometimes called Werdnig-Hoffmann disease, affects about 1 in 10,000 babies and is said to be the leading genetic cause of infant deaths. It's the result of a gene mutation that inhibits the growth of proteins that control muscles, making them weak or floppy.

Until now, there was no treatment or cure. Spinraza, which won U.S. Food and Drug Administration approval less than two months ago, was fast-tracked under the federal Orphan Drug Act , designed to encourage treatments for rare diseases that affect fewer than 200,000 Americans a year.

Sutter is the first facility in the region to offer Spinraza. For two of its longtime pediatric neurologists, Spinraza's arrival is an emotional milestone in treating a long untreatable condition. "We've gone from dismay and suffering to offering realistic hope. That's huge," said pediatric neurologist Dr. Shailesh Asaikar in a phone interview, his voice breaking with emotion. "To see this in my lifetime is very, very gratifying,"

His colleague, Dr. Paul Chretien, who gave Cash the second of four initial injections Wednesday, also teared up, describing what it's like after 30 years of treating SMA patients to finally have something tangible to offer families. "This is where you give hope to the hopeless," he said clasping his hands in gratitude.

Although Cash is their first SMA patient to receive Spinraza, Chretien said the "floodgates have opened," with dozens of SMA families in Northern California calling for information. He said UC Davis and Stanford University also are ramping up programs to treat SMA patients with Spinraza.

The drug's approval comes as pharmaceutical companies face continuing uproar over the high cost of drugs to treat certain diseases. Last week, Marathon Pharmaceuticals, the Northbrook, Ill.-based manufacturer of a new U.S. drug for Duchenne muscular dystrophy, announced the company was "pausing" the launch to address furious reaction by families and lawmakers who denounced its cost. For years, patients had purchased the drug overseas for about $1,200 a year, but were stunned to find it was about to be offered in the United States -- for $89,000 a year.

Orphan drugs: At what cost?

The number of new orphan drugs -- and the increase in their costs -- has been accelerating since 1983, when the federal government launched the Orphan Drug Act. The program offers drug companies incentives, such as 50 percent tax credits on research and development costs, shorter or fewer clinical trials and a seven-year market exclusivity once a drug or product is approved.

Those incentives have worked. In the last 30 years, more than 590 new U.S. orphan drugs and biological products for rare diseases have been introduced; that compares with only 10 from 1973 to 1983, before the federal legislation went into effect.

As they've proliferated, the pricing has steadily climbed. The median, inflation-adjusted cost of "market entry" for orphan drugs treating chronic conditions has doubled every five years since 1983, according to a May 2016 study by the International Society for Pharmacoeconomics and Outcomes Research.

For the relatively few Americans who rely on orphan drugs, the average cost per patient was $118,200 a year, compared with $23,300 for non-orphan drugs, according to a 2015 annual survey by research company EvaluatePharma.

Globally, orphan drug sales are expected to reach $178 billion by 2020, climbing to about 20 percent of overall prescription drug sales, according to the study. "The continued health of the orphan drug market is in stark contrast to some of the recent turbulence experienced by the wider drug industry," the study noted. It attributed "the enduring appeal of orphan drugs" to a variety of factors, including an easily defined patient population, a lack of alternative treatment options, lower research and development costs and the prices the drugs can command.

So far, the study said, orphan drug developers have been able defend the cost of these "life-changing drugs" due to the "relatively small patient populations they serve and the continued paucity of options for sufferers." But, it noted, as the number of orphan drugs increases, "it may become harder to justify prices."

With Spinraza, each thumb-sized 5-milliliter vial -- about a teaspoon's worth -- costs $125,000. The recommended dosage is four "loading" injections within about two months, followed by maintenance shots every four months for life. For families such as the Goepperts, that price tag is staggering: roughly half a million dollars just for the initial series of Spinraza shots and $375,000 a year thereafter.

Both Goepperts say they're worried about the potential costs. Their insurance company, Blue Shield, approved the first four doses, but they haven't seen a bill yet and don't know how much the company plans to cover.

After Biogen Inc, the Cambridge, Mass.-based manufacturer of Spinraza, announced the drug's debut, pharmaceutical investment analysts weighed in. "We believe the Spinraza pricing decision is likely to invite a storm of criticism, up to and including presidential tweets," said Geoffrey C. Porges, Leerink investment bank analyst in a note to investors. "The sticker-shock presented in the media could turn Spinraza into ... the straw that breaks the camel's back in terms of the U.S. market's tolerance for rare disease drug pricing."

But, he added, Spinraza's pricing is not "out of line" with other rare disease treatments.

Biogen officials said Spinraza's price was carefully determined.

"We are very aware of public discussions of pricing. But we are very clear that we have a developed a therapy with a really big impact on a very bad disease," said Dr. Gilmore O'Neill, Biogen's senior vice president of late stage clinical development.

O'Neill, a physician who said he still remembers the trauma of diagnosing SMA as a young doctor, said he literally "whooped" with excitement when the clinical trial results showed Spinraza could stave off SMA. O'Neill said the company, which offers financial help and a "$0 copay" program, is committed to ensuring "that no patient will not get access for financial reasons."

Life with SMA

When Cash was born, nothing seemed amiss. He passed routine newborn testing and started breastfeeding. But that sweet normalcy didn't last long.

Ashley Goeppert, who was finishing her master's degree as a nurse practitioner, became concerned that Cash wasn't able to lift his head and his limbs seemed limp. When he was 3 months old, genetic testing confirmed a dreaded diagnosis: SMA.

"Everyone else was writing him off," said Cameron Goeppert, 35, a burly firefighter and paramedic who said they were told to take Cash home and "make him comfortable" for the remaining time the helpless infant had left.

Instead, the young family moved from a small town near Truckee to Turlock in the Central Valley to access a wider range of pediatric specialists. Cameron joined a Stanislaus County fire district and Ashley gave up her nursing career to become Cash's full-time caregiver. As their son's muscle control deteriorated, he was given a feeding tube at 4 months; a tracheotomy for breathing at age 3.

Seven years later , the couple are undaunted by the round-the-clock demands of caring for their lanky, loveable boy. At 38 pounds, Cash cannot move a single muscle, save for an ever-so-slight pointing of his index fingers and the "butterflies" he creates by rolling his deep-lashed eyes.

He breathes with a ventilator, via a tracheostomy in his throat. A "cough assist" machine is used to force his lungs to expand and contract. Through donations from church groups and charities such as the Make-a-Wish Foundation, the family's home is equipped with technologies that make daily life easier. There's a $25,000 overhead track system that lets them easily glide Cash on a platform from bedroom to bathroom to living room. He has a large reclining stroller and a power wheelchair, which he uses to take the family dog, Martzen, for a walk.

Through a virtual hookup, the first grader also attends a regular elementary classroom in Turlock, where he can follow lesson plans and interact with his classmates via a schoolroom robot, which serves as his stand-in.

On a recent afternoon in the family's family room, Cash lies immobile in the family living room on a Dr. Seuss quilt, wearing khakis, T-shirt and a fleece vest. His ventilator hums. Although he cannot speak beyond muffled sounds that only his parents can interpret, a laptop computer program converts his eye-directed typing into a simulated voice. Asked to name his favorite cartoon, his eyes danced over his screen, yielding a quick response from a computerized voice: "P-B-S," the TV channel that broadcasts "Wild Kratts," an animated animal program. Cash is also an expert at eye-navigating his way through a YouTube menu of cartoon videos and games. He knows how to skip ads, turn up the volume and select the cartoons he wants to watch.

While most parents would worry over too much screen time for a first-grader, for Cash, it's a different equation. "It's total control for him. It's freedom. He can go wherever he wants," said his father.

A year ago, in a leap of faith, the couple became pregnant with their second child, Colton, who genetically had a 25 percent chance of being born with SMA. "We had reached a point where we knew that if we had another child with SMA, we knew how to handle it," said Cameron, his eyes on his busy 16-month-old, who was born without the condition.

This week, the couple again made the drive up Highway 99 to Sacramento for a second shot of Spinraza. They tell Cash it's a superhero "power booster" shot to make him stronger. Since the first dose on Feb. 1, the couple said they've already seen signs of improvement, from slight, independent movements in Cash's fingers to a dimple-like twitch near his mouth, things they haven't witnessed since his infancy. This week, his doctor confirmed that his ventilator readings are showing stronger breaths, indicating improvement in his muscles.

For SMA parents such as the Goepperts, those seemingly imperceptible milestones are a hopeful sign that the condition's progression can be halted. At the very least, said his father, "We've been given the chance for a lot more tomorrows."

Claudia Buck: 916-321-1968, @Claudia_Buck

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