How Competition Affects Market Access for Rare Disease Therapeutics

For years, the rare disease community has looked forward to a time when patients and physicians will be able to choose among multiple treatment options to provide the best care. For some rare conditions, that day has arrived. In the U.S., four therapies are now available to patients with Duchenne muscular dystrophy (DMD) and three each for spinal muscular atrophy (SMA) and transthyretin amyloidosis (ATTR).

Syneos Health has shed light on frequently asked questions and related issues to treatment options by surveying payers who have direct experience with DMD, SMA, and ATTR. Their responses suggest that manufacturers must be prepared to negotiate on price, rebates, and other matters. Our interviews also add support to a body of research showing that payers are adopting more restrictive practices in response to the growing number and high costs of orphan products.

Landscape Analysis

Numerous studies and surveys have shown that the rising number of approved orphan drugs and their relatively high retail prices are squarely on the radar for insurers. While rare diseases still occupy a low position on payer rankings of budgetary concerns, this does not mean the patient journey is free of market-access hurdles. Research shows that virtually all rare disease conditions currently require prior authorization (PA) before treatment commences—and this is just the beginning.

Orphan Products = Financial Pressure

Orphan drugs cost, on average, 350% more than non-orphan products. And the FDA is approving more such treatments every year, increasing financial pressure on payers.

The National Institutes of Health estimates 25-30 million Americans are affected by one of 7,000 different rare diseases, defined as conditions affecting fewer than 200,000 people.1 Historically, patients had few options for treating these illnesses. The picture has improved somewhat over the past seven years. And as new therapies arrived, payers covered most or all of them, once PA requirements were met.

Plentiful Treatment Pipeline

DMD, SMA, and ATTR are life-threatening and mostly inherited conditions that are often diagnosed in childhood:

  • DMD is characterized by progressive muscle degeneration. Until recently, boys with DMD often didn’t survive beyond their teen years.
  • SMA is a progressive, neurodegenerative disease affecting motor nerve cells. The damage inhibits patients’ ability to eat, crawl, walk—even to breathe. SMA is the leading genetic cause of death in infants.
  • ATTR is caused by misfolded proteins forming fibrils that accumulate as deposits in the heart, nerves, and other tissues. Both hereditary and non-hereditary forms of ATTR can cause a variety of symptoms ranging from burning pain to spinal stenosis to heart failure.

All three conditions have been the subject of intensive research by a myriad of biopharma companies, leading to a plentiful treatment pipeline. With the emergence of multiple treatments for several rare diseases, payers could leverage the treatment options to select preferred products, which may result in different access outcomes for products indicated for the same diseases.

Payer Perceptions and Practices

The proliferation of multiple treatments for the same rare conditions has profound implications, not just for patients and their physicians, but for public and commercial payers, hospital systems, product innovators, and other rare disease stakeholders. Trends coalescing around the three diseases offer a preview of changes we can anticipate across the rare disease sector.

To better understand this landscape shift, Syneos Health conducted interviews with 10 pharmacy, medical, and contracting directors at national and regional managed care organizations (MCOs), pharmacy benefit managers (PBMs), and integrated delivery networks (IDNs).

In the survey, we asked what challenges payers encounter when managing orphan drugs, how they determine benefit category, and changes they anticipate in the next three to five years. With multiple treatment alternatives available, we wished to learn how contracting would determine formulary placement for the three conditions under consideration—and more broadly as rare diseases become a higher priority for payers.

Unsurprisingly, nine out of 10 payers said costs were the biggest challenge in orphan drug management. And while the majority agreed that rare diseases command relatively little attention at present, the high costs and budget impacts of SMA treatments make this condition an exception for some. But one pharmacy director of a large PBM said that all three diseases are now “high-priority” classes. That’s because evolving competition among therapies for the same indication creates an opportunity to manage the class more aggressively.


What our research clearly shows is that the increasing number and high cost of drugs for these three categories have already engendered a more restrictive coverage environment, with payers increasingly open to managing competing products preferentially.

This means the onus is on manufacturers to anticipate payers’ request for compelling evidence. The process may entail planning for and amassing a volume of health economics outcomes data, keeping a close eye on real-world evidence and other post-marketing surveillance data, and ensuring that medical guideline committees and other key opinion leaders in the relevant category are briefed on a product’s benefits concurrent to, or in advance of, an FDA review.

Manufacturers must identify and prioritize “high-risk” payer accounts so that they can initiate and enhance engagement with those organizations. And they must optimize pricing strategies with the likelihood of formulary constraints and tradeoffs in mind. While many rare disease products continue to be handled under medical benefits, the bigger trend is toward management under pharmacy benefits, with more exacting utilization management on the near horizon.

Stepped up research activity in rare diseases is a blessing for patients, and scientific advances all but guarantee a continued flow of medical breakthroughs. But these innovations will continue to carry noteworthy price tags. Voluntarily or not, and with or without social consensus, payers will be the gatekeepers.



  • Fang Xu, PhD

    Fang Xu, PhD is Senior Consultant at Syneos Health. After earning her PhD at Columbia University, Fang has spent the past four years at Syneos Health working with clients from around the world on oncology and hematology products.

  • Leonardo Escudero

    Leonardo Escudero is Director at Syneos Health. Leonardo has managed projects for a variety of healthcare and Fortune 500 companies for more than 12 years, working with stakeholders ranging from top pharmaceutical companies and payers to hospitals and regulatory agencies.

  • Aaron Davis

    Aaron Davis is Senior Managing Director, Consulting at Syneos Health. Aaron has spent his 19+ year career in market access strategy and execution. He is accomplished in helping innovators developing life-changing products understand their payer landscape, what works for their technology, what needs to be changed, and how to communicate with their payer customer.


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