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The High Cost of Hope: The Story of Orphan Drug Nusinersen

Reviewing a list of treatments for neuromuscular disorders is always a sobering affair. All it reveals is a string of “poor prognoses” and “supportive cares.”

One light in a world of gloomy outcomes? Nusinersen.

Discovered in 2016 and marketed as Spinraza, nusinersen is the first and only drug approved for treatment of spinal muscular atrophy (SMA). SMA is an especially devastating genetic neuromuscular disorder that presents in 1 in 10,000 live births with a life expectancy of less than two years old. A 2017 study found that nusinersen-treated infants reached more developmental motor milestones and showed improved mortality compared to an untreated cohort — a once-unheard-of improvement of function.

In an ideal world, the discovery of such a drug would receive wide distribution and slash the mortality of a disease like SMA. Our reality faces an unfortunate catch: nusinersen, which is administered intrathecally once every four months indefinitely, currently costs a whopping $125,000 per injection.

Why does a life-saving drug, for infants no less, carry such an astronomical price tag? nusinersen falls into the category of ‘orphan drug,’ a drug designed for a disease so rare that it becomes fiscally unsustainable for corporate sponsors to invest and market the medication to the public. Instead of selling one drug to 100,000 people for one dollar each, pharmaceutical companies aim to sell the drug to the one affected person for $100,000.

Orphan drugs are formally defined as “drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to the public health need.” In other words, instead of biotech companies developing drugs with the goal of marketing and profiting from mass sales, they instead research new drugs with an expressed need from patients or their advocates no matter how small the consumer market. Pharmaceutical companies were initially reluctant to take on the financial risks associated with expensive research and development for a product with a severely limited market.

This was not what patients and families wanted to hear. In a true success story in health policy activism, parents of children with rare diseases like SMA took their cause directly to Congress, medical communities, pharmaceutical companies to push for new treatments. The name “orphan drug” referred to the patients that had been “orphaned” by the medical and pharmaceutical communities due to the rareness of their diseases.

To up the ante for pharmaceutical companies, the United States then passed an ‘Orphan Drug Act’ in 1983 to help subsidize research of drugs for illnesses that affect less than 200,000 Americans. The act sought to make the development of medications for rare diseases more sustainable by loosening testing regulations and offering a fifty percent tax rebate among other benefits to lighten the economic load on pharmaceutical companies.

In the thirty years following the passage of the Orphan Drug Act, over 300 orphan drugs have hit the market — a large uptick from the total of ten drugs viewed in the ten years prior to the bill’s enactment. Many of these drugs have picked up additional clinical uses and include household names like Botox and Cialis.

The Orphan Drug Act was a decided success in spurring the development of drugs like nusinersen but had the unintended consequence of permitting a very large price tag on those drugs marketed to a very small population. While financial assistance is offered to patients, the cost continues to be a substantial strain on an already economically overburdened health system.

In addition, those on Medicaid or without insurance face substantially higher out-of-pocket payments. Furthermore, while nusinersen was approved for use in 2016, some state Medicaid programs did not approve coverage until 2017 or 2018, a time lag that can mean life or death for those with a condition like SMA. Many companies are also able to make additional profits from orphan drugs by finding supplemental indications and selling to a much larger market at the higher price.

Despite all the incentives offered by the Orphan Drug Act, most pharmaceutical companies are of the opinion that high prices are still warranted to make an acceptable return on their investments. Former California democratic representative Henry Waxman, one of the leaders on the push to pass the Orphan Drug Act, spoke to the challenge of stopping companies from manipulating their patents to take advantage of such benefits in a recent interview with Bloomberg BMA.

“Orphan drugs are orphans no more; they’re very popular,” he said in the interview. “There are pharmaceutical companies that handle their whole business plan to make sure their drug can be categorized as an orphan drug.”

The latest challenge for advocates of rare disease treatment is to reduce the price of orphan drugs without eliminating the incentive for pharmaceutical companies to pursue the development of a new treatment. A position paper by EURODIS, a European advocacy group for rare diseases, suggested costs could be cut by examining and correcting the inefficiencies of the current drug trial process. Another report from PharmaIntelligence suggested the best way to improve price control of orphan drugs would be to advocate for increased market competition, a development that may naturally occur as more and more breakthroughs are made in the common arenas of cancer treatment or immunotherapy that often find use among rarer conditions.

The challenge of orphan drug pricing like all challenges currently facing the American health care economy is complex and multifaceted. There simply isn’t one clear-cut solution to this problem. What we can do as new physicians is start to become familiar with the economics and policies of the drugs we administer so that we advocate for the fair availability of life-saving drugs like nusinersen for our future patients.

Zaynah Alam (3 Posts)


Emory University School of Medicine

Zaynah Alam is a member of the Class of 2021 at Emory University School of Medicine. She grew up in Chapel Hill, NC and has a BS in Neuroscience from Duke University. Her interests include science fiction, health as a human right, and eating at every pho restaurant in the city of Atlanta.