Family affair

Rare disease marketing has become a family affair

For an example of how far precision medicine has come over the past quarter century, spend a few minutes on the phone with Debra Miller, Founder and CEO of CureDuchenne.

Twenty years ago, when doctors diagnosed her son Hawken with Duchenne muscular dystrophy (DMD), no clinical trials were underway to study this rare and fatal neuromuscular disease that affects approximately 1 in 3,500 boys. owken is a 25-year-old aspiring journalist and has at least 30 DMD clinical trials underway.

To hear Miller tell it, today’s rare disease landscape, in terms of marketing, research, and community interaction, has almost nothing in common with that of 20 years ago.

“I am impressed and grateful that long before receiving drug approval, these companies invest a lot of money and resources in developing their launch plan – everything from marketing materials to hiring staff to setting up patient support, which includes helping patients pay through insurance,” she said.

Welcome to the new era of rare disease marketing that is much more patient-focused.

It’s been far too long in coming. An estimated 30 million Americans suffer from rare diseases (defined by the US Food and Drug Administration as a disease affecting fewer than 200,000 people). Yet most companies wouldn’t invest in rare disease research if it weren’t for the Orphan Drugs Act of 1983, which offers a substantial tax credit to companies that conduct clinical trials of therapies potential for rare diseases (thus reducing the cost of drug development).

According to the National Organization for Rare Diseases (NORD), 33% fewer rare disease drugs would be developed without the credit. In fact, before the Orphan Drug Act took effect, the FDA approved an average of one new rare disease drug per year. But between 1983 and 2016, the agency gave the green light to 451 orphan drugs for 590 rare disease indications.

In 2021 alone, 50 rare disease therapies were approved, including Argenx’s Vyvgart to treat generalized myasthenia gravis; Livmarli from Mirum Pharmaceuticals to prevent severe itching associated with Alagille syndrome; Genzyme’s Nexviazyme for late-onset Pompe disease; and Amondys 45 from Sarepta Therapeutics to treat patients with DMD whose mutations are likely to skip exon 45.

That same year, investors spent nearly $23 billion to develop rare disease therapies, a 28% jump from spending in 2020. Yet 95% of the estimated 7,000 rare diseases known to science still lack approved treatments, let alone cures.

This is one of the reasons why family engagement has become a crucial element in almost every rare disease outbreak.

Even before the pandemic, CureDuchenne was sponsoring up to 30 one-day workshops a year across the country. “These are opportunities for businesses to meet families and develop relationships,” Miller says. “Just by reading an advertisement, it’s really hard for families to put things into perspective… We’re trying to educate the patient community about what’s out there, working closely with pharmaceutical companies on how to communicate clearly and understandably.

Dr. Terry Jo Bichell, executive director of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, agrees. Like Miller, her work straddles the personal and the professional: She has a son, Louie, who has Angelman syndrome, one of 33 rare genetic neurodevelopmental diseases covered by her nonprofit.

“We’ve all seen those TV ads for rare disease treatments, but I wonder how many people who see them end up following the links,” she says. “Pharmaceutical companies really need to work with patient advocacy groups like ours because these are the groups that know the patients and where they are around the world.”

While Bichell isn’t opposed to working with a number of organizations across the health technology continuum – she praises Ambit for helping to educate primary care practitioners on the importance of diagnosing and treating rare diseases. – she warns that it has a potential cost.

“You have patient advocacy groups that know patients’ names and where they live, and then companies like Ambit trying to get their hands on doctors,” she explains. “But rare disease organizations have to be very careful, because if they favor one company over another and that company doesn’t have enough customers, they could actually leak a good drug.”

Despite these concerns, many industry veterans — including Karin Waldman, executive vice president and director of strategic services at Patients & Purpose, who has worked in rare diseases for more than a decade — marvel at the changes.

“Rare diseases are one of the few areas where there could be real breakthroughs for patients, even in rare cancers that were once totally incurable. It’s amazing to see a rare disease like bile duct cancer that now has a targeted therapy,” she says.

But changes in the media landscape, she adds, present potential dangers for organizations that haven’t adjusted their approaches to better accommodate patients and families.

“With the rise of social media, rare disease patients – who were previously scattered around the world – now have a platform to connect and empower themselves. Any successful campaign must partner with real patients, because if a pharmaceutical company makes a mistake, everyone will know,” she says. “On the other hand, if they do the right thing and treat patients right, they will do very well .”

Interestingly, Waldman isn’t big on television campaigns for rare diseases.

“In this case, we rely on the Internet for communications. This is where patients and caregivers go for information, and it just makes sense,” she says. “They have their hands full with their child, so giving them online tools allows them to absorb content and information about their schedule. It has to be when they want to access it, not when we think they want to access it.

Bo Bigelow, one of the co-founders of the Rare Disease Film Festival, wholeheartedly agrees.

Bigelow is the father of Tess, a 12-year-old girl with Hao-Fountain Syndrome, an ultra-rare USP7 gene mutation that causes speech impairment and autism-like symptoms. She was the eighth person in the world identified with the disease.

“And now we’re at 135,” Bigelow proudly says, in testament to his work as president and co-founder of the Hao-Fountain Syndrome Foundation, which he runs with his wife Kate McCrann. “Over the past two years, organizations like ours with a cohort of this size or even smaller have started talking to each other more systematically.”

It goes without saying that families like the Bigelows are watching the rare disease landscape more closely than ever.

“What changes over time is that the voice of organizations like ours is moving to the forefront of what marketing is,” he notes. “For years, biotech and pharma companies offered these platitudes on the voice of patients, but they didn’t really embrace this idea in mind. Now that we’re all talking to each other and comparing notes, drug companies are starting to see our patients as people – and it’s starting to become a bigger part of their marketing.

And don’t overlook relationships with KOLs across a range of clinical areas. Such relationships, notes Craig Martin, CEO of Global Genes, help advocacy organizations take a more active role in drug development than ever before.

“This is important because very few rare diseases actually have an approved treatment,” he explains. “So by the time an organization has an approved and available therapy, they should have established a relationship with that community and through that have the ability to reach patients in a very targeted way.”

The ultimate example of this, Martin says, was the Cystic Fibrosis Foundation, whose years of cooperation with Vertex ultimately resulted in three FDA-approved treatments for cystic fibrosis.

“Other communities in the broader rare disease field have looked at this and said, ‘That’s probably a good model to follow,'” he adds.

Even so, Martin again warns that only a small percentage of the thousands of rare diseases have approved treatments. “With the more ‘common’ rare diseases, you find multiple development programs where you’re competing for the same group of patients, and that group is widely dispersed,” he adds.

As for what comes next, rare disease experts believe what’s past is prologue. Dudnyk Group creative director Kristin Morris recalls the exact moment she realized the market was changing. It happened at a conference on hereditary angioedema, an allergy that affects only 6,000 patients in the United States.

“We had enjoyed being the only product in this space for a while. But as we walked around, I felt like everywhere we turned there was a booth for a competing product for this same rare disease. It was kind of surreal,” she recalls.

It was then that he realized that patients now had so many options available to them after years of searching for answers that his client’s first market demand “no longer meant big -thing”.

It’s more about authenticity and connection. “You can’t be flashy. It’s about focused innovation, about using your know-how to solve real problems, to raise your voice and empower people who have been left alone for a long time,” she continues.

Indeed, with such competition in the market, the matrix of marketers has changed. They used to struggle to reach patients and their families; now it is difficult to be heard amidst the din of messages from other organizations. That’s why traditional tactics have been put on the back burner in favor of campaigns that emphasize “deliberate innovation” in the products themselves, Morris says. “Statements like ‘cool science’ or ‘first and only’ have opened doors in rare diseases, but that’s not enough anymore,” she explains. “Our audiences want to feel connected to the story we’re telling and know that we’re seeing them and their stories matter to us. This is the new entry cost.

Excerpt from the May 01, 2022 issue of MM+M – Medical Marketing and Media