Marathon Pharmaceuticals is pausing the commercial activities of its new drug for Duchenne muscular dystrophy, Emflaza. 

Orphan drugs often spell big profits for manufacturers, and unmet medical needs mean many camps are clamoring to quickly shuttle products to market. But as the balance of commercial operations shifts, manufacturers are increasingly tasked with penning a new marketing playbook amid loud chatter from rare disease patient-advocacy communities and ongoing concern about the prices of orphan therapies.

And amid heightened scrutiny, Sen. Charles Grassley (R-IA) said his office was opening an inquiry of potential abuses of the Orphan Drug Act, following a media report, which found that drugmakers used the legislation to gain control of rare-disease markets.

See also: Top 25 rare disease brands, by sales

The latest drugmaker caught in the crossfire was Marathon Pharmaceuticals, which plans to pause the commercial activities of its new drug for Duchenne muscular dystrophy (DMD), Emflaza, due to backlash over its $89,000 price tag. “We are pausing our commercialization efforts in order to meet with Duchenne community leaders and explain our commercialization plans, review their concerns, discuss all options, and move forward with commercialization based on the resulting plan of action,” the company said Feb. 13. 

At the same time, the sector may benefit from the 21st Century Cures Act, which is poised to give patients a stronger voice and more influence, and could prompt a quicker approval path for many drugs. However, this past year the FDA ushered the fewest number of drugs to market since 2010. In contrast to the 21 orphan drug endorsements in 2015, a total of 22 drugs were approved across all categories in 2016.

President Donald Trump has vowed to expedite the drug-approval process — and tame rising drug prices — but critics are concerned changes will chaperone a sea of ineffective and unsafe drugs to market. That might not hold within the rare-disease space, though. Here, patients long for more power to decide whether a drug is right for them.

For example, take the DMD treatment landscape. In recent years, it has been shaped by patient voices, such as when Sarepta Therapeutics celebrated an approval for Exondys 51 (eteplirsen) on the heels of BioMarin’s rejected drug in the same category. The patient community rejoiced even though a mere 13% of patients have the genetic mutation targeted by eteplirsen.

See also: On drug pricing, Acorda CEO is optimistic

“The patient community rallied around Sarepta because they wanted an option and the ability to weigh in on the risks they’re willing to take,” observes Heather Gartman, a regional managing director with inVentiv Health PR Group. “It’s a case study in what patients can accomplish.”

Sarepta began making investments in the DMD community years before the drug’s approval. The biopharma firm joined forces with advocacy group Parent Project Muscular Dystrophy (PPMD) and patient registry DuchenneConnect in 2013 to help individuals with DMD access genetic testing. Now all eyes are on Sarepta, as Exondys 51’s approval requires confirmation of the drug’s clinical benefit.


Advocacy groups want the FDA to have the appropriate tools and knowledge to make decisions, explains Stephanie Bozarth, chair of the MPS Society advocacy committee and parent of a child with Morquio syndrome, also known as MPS IV. At the same time, they also want to contribute more input on a potential treatment’s risk-benefit profile.

That’s precisely the energy and moxie that pharma needs to tap into, Gartman says. “The patient community wants to be involved during a treatment’s earliest days, when the manufacturer is developing the clinical trial protocols.”

Pharma is beginning to realize the benefits of such early alignment. “Patients can help build the support a pharma company needs from discovery to launch,” Gartman continues. “And when the drug launches down the line, they’ve already forged meaningful patient relationships.”

In addition to Marathon, a handful of other rare-disease drugmakers have found themselves in the headlines for sky-high prices. Most recently, Biogen and Ionis Pharmaceuticals, makers of Spinraza (nusinersen), landed in the middle of a controversial pricing storm, one many observers think could have been avoided.

The spinal muscular atrophy (SMA) community saw Spinraza, its first treatment option, gain approval near the end of 2016. At first, the companies did everything by the book. In the months leading up to launch, the marketing team provided informational materials and resources through its Together in SMA campaign, hoping to earn the trust of future patients.

But while analysts agree the market potential for Spinraza is huge, is that because of its eye-popping first-year cost of $750,000, or because of unmet need? This is where things get murky. Patients and advocates spend their time on the battle lines hoping to gain FDA approval stamps for solutions such as Spinraza, then are crushed to learn prices put such treatments out of reach. Indeed, when discussing the nation’s ability to stomach orphan drug costs, Leerink Swann analyst Geoffrey Porges has called the price tag “the straw that breaks the camel’s back.”

Because rare diseases come with a long list of nonspecific symptoms, and curative treatments are often nonexistent, disease-awareness campaigns are more at home in the orphan drug market than any other therapeutic category. David Henderson, practice director at IT and services company Mavens, says successful orphan drug marketers have shifted their focus away from products and toward disease-state education or, as he puts it, the old ED story of “selling the disease.”


The collective reach of orphan drugs is huge. Though each of the more than 7,000 diseases affects relatively small population segments, 30 million Americans have a rare disease. Patients and advocates mostly want information, tools, and a platform through which they can share their needs.

“We need an arsenal of reliable materials and visuals that are easy to digest so parents can spread the correct information to urgent care centers, teachers, pediatricians, and physical therapists, all of whom have never heard of our disease,” Bozarth explains.

Disease-awareness campaigns are used to inspire patients to take action — such as following up with a healthcare professional about lingering symptoms — and as a lead-in to branded outreach down the line. They’re also an opportunity to unite various stakeholders on the treatment continuum.

See also: Orphan drug sales expected to grow 12% by 2020

Cambridge BioMarketing CEO Maureen Franco notes patients and caregivers across the globe are talking to one another on social media and blogs, opening up new opportunities for savvy marketers.

“Pharma has to go find patients, understand them, and eventually communicate with them on these platforms,” she adds. “It requires breaking the mold with nontraditional, non-personal tactics while remaining compliant.”

More makers of orphan drugs are attempting to devise new ways to differentiate themselves, such as extending conversations from one communication platform to the next. Uncommon Strength, an unbranded website launched by Alexion Pharmaceuticals, allows patients and caregivers to create — and share on social media — superhero avatars designed to reflect the strength and resilience of individuals affected by rare diseases.


The patient voice has emerged as an essential element in clinical development. Involving patients early on in a drug’s development can keep the process on the right track, while patient input in clinical trials can translate to simplified informed consent forms, fewer trial protocol amendments, and more patients completing trials, according to an inVentiv Health advocacy report.

Franco agrees treating patients as thought leaders and recognizing their power is imperative. “The patient often knows more about a rare disease than the physician. Understanding that is key to any campaign,” she says.

To be successful, manufacturers need to embrace patient centricity more effectively and enthusiastically. Although Gartman believes pharma is moving in the right direction, she says marketers still need to devise “better internal roadmaps.”

Orphan drug marketers need to focus on the obstacles caregivers and patients face, reports Josh Bach, managing director at Van Conway & Partners.

“Companies want patients to discover innovations before they reach the marketplace, so they’ll demand the therapies from physicians,” he explains. “It’s a process that starts long before launch.”

A drug’s approval is just one obstacle. Reimbursement and proper coverage also continue to weigh on the new reality of rare disease. For example, now that Exondys 51 has been approved in the DMD sector, several insurers are bowing out of coverage responsibility.

Outreach in the early stages of development is paramount to an orphan drug’s marketability down the line. This often means initiating early engagement with associations, identifying obstacles to coverage way before a drug reaches the market, and securing coverage on formularies. “These elements help companies hit the ground running when the drug is approved,” Bach notes.

See also: Trump administration raises questions for rare-disease drugmakers

There’s chatter across the industry about how to market rare-disease drugs, but successful strategies remain a closely held secret.

“I’ve seen flares of innovation in marketing, but they don’t take hold,” Bach adds. “Orphan is a different animal from other therapeutic areas. The biggest problem is blockbuster marketers have become the rare-disease marketers.”

Expanded opportunities have attracted commitments from many players, both those familiar with the landscape and those willing to dip a cautious toe in the waters. The sector has put the wheels into motion for a sweeping culture change, one that embraces unbranded patient support resources and prioritizes interactions with representative patient populations to gather insights.