In the past, rare disease manufacturers often assumed that any therapy they launched would automatically be covered by most health plans. But the rising cost of many rare disease drugs has increased payer sensitivity to the expense of these therapies, even those with orphan drug designation. Many rare disease treatments are placed in the highest cost-sharing tier, and intensive utilization management (UM) restrictions are common.

Rare disease manufacturers must take these factors into consideration when determining their market access strategy. Typically, these pharmaceutical companies are smaller and less well-funded than most, and they tend to have a smaller sales force and advertising budget. Where should they spend their limited dollars?

The answer lies in a shift in priorities. In the rare disease space, the key ingredient for market access is not the total number of covered lives—it’s patient identification. Manufacturers must figure out where they need to focus their attention before they deploy their resources.

Using real-world data to identify patients

Market access begins with a thorough understanding of the typical patient’s care journey, from their initial symptoms to their testing history, path to diagnosis, attempted treatments, and current outcomes. Real-world datasets, especially claims and labs data, can help manufacturers identify the health plans and geographies with the highest concentration of patients.

Depending on the trajectory of the disease and the desired timeline for their therapy, manufacturers may want to focus on aggregated claims data—which can indicate patients who have already begun treatment—or on normalized labs data, which can identify patients earlier in the disease lifecycle, before a treatment is prescribed.

Typically, a patient who is eventually diagnosed with a rare disease will be subjected to a certain progression of tests, from blood tests to genetic and biomarker tests. By understanding the test sequencing for the disease, manufacturers can identify both potential patients and the ordering providers who care for them.

Some rare diseases also have a demographic component that correlates to specific geographies. For example, some diseases and genetic disorders—like sickle cell disease, familial hypercholesterolemia, and autoimmune hepatitis—are more prevalent within patients of a particular ethnicity. By determining demographic and/or socioeconomic commonalities for a given patient population, manufacturers can focus their efforts on geographic areas with a higher concentration of the disease.

Targeting plans and providers

In rare diseases, timing is everything. After using longitudinal data to pinpoint the location of potential patients, manufacturers can identify relevant specialists and physician groups to target for marketing campaigns and in-person outreach.

Some lab datasets can even reveal physicians with patients who have tested positive for a particular condition the day before. Linking marketing promotions to lab alerts can be very effective. If the sales rep can get in front of the physician while they are thinking about a specific patient’s treatment, it is more likely the physician will seriously consider prescribing rather than simply filing the information away for later.

Once they know where patients are concentrated, manufacturers can also direct their resources toward persuading targeted payers and PBMs to cover their treatment. Before we discuss how they might do this, let’s first look at how therapies for rare diseases are typically covered.

Understanding coverage and restrictions

As most manufacturers are aware, the rule of three can be instrumental in planning a launch strategy. Essentially, if a manufacturer’s ideal patient population has three therapeutic options from which to choose, the fourth therapy to enter this space will likely need to contract with payers and PBMs to gain favorable coverage.

Rare disease manufacturers are often surprised to find that the rule of three applies equally to their rare disease space. Manufacturers may assume that all rare disease products are covered, because the condition is so rare that payers will not need to control access. And generally, access is not controlled if there are only one or two therapeutic options available. However, once the third therapy comes along, payers are much more likely to place restrictions on access—which can be a worse prospect for manufacturers than never gaining coverage at all.

In the rare disease space, in fact, payers may place these restrictions on even the first commercialized treatment for an indication. Manufacturers of first-to-market therapies often assume that their treatment will naturally be covered by insurers. But payers are becoming more cautious about new rare disease therapies, many of which have been fast-tracked through FDA approval.

A payer who takes a wait-and-see approach to coverage may actually force every authorization request through the medical director. This approach is often used when there is insufficient longitudinal data for a payer’s P&T decision makers to review. When little data exists, payers may want to review every treatment to ensure adequate medical necessity exists before they will pay for the treatment.

Prior to FDA approval, many manufacturers have already applied to the FDA’s Orphan Drug Designation program, which provides incentives for drugs and biologics for rare diseases affecting less than 200,000 patients in the U.S. While orphan drug status does mandate coverage by insurers, researchers have found that commercial health plans apply UM restrictions for approximately 30% of orphan drugs.

Knowing what matters to payers

From a payer’s perspective, the emergence of a new therapy for a rare disease focuses attention on a patient subpopulation that was previously invisible to them. Health plan members who were finding symptomatic relief with over-the-counter medication now have a new treatment paradigm available, one which could prove to be extremely expensive for the payer.

Whenever a therapy increases visibility into a previously untreated patient population, payers grow concerned that costs will skyrocket as afflicted patients search for health plans that will cover the new treatment. To combat member disruption, most payers may choose to cover a drug but not list it as covered on their formulary or within their medical policies.

Remember, a health plan’s formularies function as a public advertisement of the plan’s covered treatments. Formularies and medical procedure lists act as abridged versions of covered therapies, not an exhaustive list of every treatment the payer will actually cover.

Keeping coverage details out of the public eye avoids negative press, as patients afflicted with a rare disease are not being denied coverage outright. Instead, physicians and pharmacists must request a medical or formulary exception for each patient—a process which requires considerable time and energy for providers and their office staff.

If a payer does decide to publicly cover the new therapy, it will likely include UM restrictions, increasing the administrative burden for providers to prescribe the product.

Building a persuasive value story

To combat these maneuvers, manufacturers of rare disease treatments—particularly those that expose a new patient subpopulation—need a cohesive value story for their treatment. They need to fully understand what is happening with patients who remain untreated for this rare disease. Will their symptoms eventually lead them to have surgery? What comorbidities are likely to worsen for these patients as they get sicker? Are these patients likely to be repeat users of emergency care?

For example, pediatric patients with Rett syndrome, a genetic neurological disorder that leads to a loss of language and motor skills, can end up having regular seizures, necessitating frequent ER visits. Without treatment, patients with rare diseases can overburden a hospital or IDN’s resources without ever finding relief from their symptoms.

If manufacturers can build a value story that proves a payer can save money in the long run by proactively treating the patient today, they are more likely to achieve less restrictive coverage. While telling the personal stories of afflicted patients can be a powerful impetus for some payer decision-makers, manufacturers cannot rely on the personal alone—they must quantify the value of treatment as well as the risk of non-treatment.

In March 2023, the FDA approved Acadia Pharmaceuticals’ Daybue, the first treatment for Rett syndrome, which is now available at an average net realized cost to payers of approximately $375,000 per year. Persuading payers to cover the drug will require Arcadia to tell a convincing story about the value of providing a non-curative product that requires continual treatment—a difficult task.

In some cases, a manufacturer may have success by specifying the exact number of a health plan’s members who would benefit from their treatment. If a payer balks at the price of a drug, explaining that only four current members would be impacted could help a manufacturer make their case. Prevalence data can also reassure payers of the limited nature of the disease.

If a health plan does in fact have a larger-than-average population of patients with the disease, manufacturers can also step in to minimize the financial burden on the payer. For example, a manufacturer could offer a value-based or cost-cap contract to the payer, so that both the manufacturer and the payer share the financial risk of providing treatment.

Refining payer-specific messaging

To build a quality value story, manufacturers of rare disease treatments may want to meet with payers ahead of time to practice and test their messaging. Understanding how these decision-makers evaluate a drug and perform cost analyses can be immensely helpful to manufacturers planning a launch. Knowing in advance what data is necessary to collect during Phase III can also make all the difference in crafting airtight value propositions that are useful for both payer and provider conversations.

While coverage is never guaranteed, the good news for rare disease manufacturers is that the patients and families who benefit from their therapies are extremely motivated to access treatment. Of the 6,000 known rare diseases, approximately 75% affect children. Parents are unlikely to back down when it comes to fighting for coverage for their children.

By telling the right value story and stressing the limited number of members impacted by a particular condition or disorder, rare disease manufacturers can help ensure access to their therapies for those who desperately need it.

Learn how MMIT’s Patient Access Analytics and Lab-Based RWE solutions can help your team identify potential patients and key providers.