We’ve learned through experience and gained vital insights which translate into value for our clients. Here we share with you a few industry perspectives on critical issues in the commercialization of rare disease and gene therapy products.

Clearly understanding and defining your market opportunity plays an integral role in everything from organizational expectation setting and thus company valuation, to field force sizing/structure and capital planning, yet this vital activity takes on unique challenges in the setting of rare diseases. We at RCP have real-world experience with these challenges.

We have seen the consequences of incorporating a commercial lens on market sizing far too late. It is not uncommon to see organizations waiting until Phase 3 to bring on commercially focused FTE’s. Furthermore, these FTE’s are often headquarters-based roles, with limited on insight gathering from disease specific KOL’s. This often leads to an overreliance on billing and coding data and academic literature-based measures of market potential, which while important, are commonly less accurate in rare diseases.

By their very nature, rare diseases are often poorly defined. This commonly leads to incorrect, non-specific (or even non-existent) billing codes, and just as detrimentally to your market understanding, providers unintendedly using codes incorrectly. Similarly, academic literature for rare diseases may be limited in quantity and is typically focused on those most severe patient presentations. This ignores what we refer to as the “severity/incidence inverse”, or the tendency in a rare disease to find lower incidences of those with the most severe form of disease, while finding higher incidence of those with a less severe incidence disease.

Fortunately, these common imprecisions of quantitative data can be minimized when combined with qualitative field-based insights. Let RCP show you how understanding common rare disease market sizing pitfalls EARLY in your commercialization planning can avoid costly mistakes.

Patient Identification (ID) is challenging in rare diseases and yet, it is the lifeblood of any rare disease organization. Often, your commercial organizations ability to find patients is its most important function. The most successful rare disease organizations are masterful in their ability to identify patients.

We have repeatedly seen organizations create Patient ID strategy and implement that strategy just before, or immediately after, commercial launch. In RCP’s experience, this is far too late. Patient ID involves creating provider urgency for screening, clearly defining those who need to be screened, and removing barriers to appropriate screening. This is often an iterative process. Ideally, you will have wanted to implement a strategy, evaluate areas for improvement, then optimize and initiate an improved version, all well before launch. Your first Patient ID strategy iteration is unlikely to be optimized and implementing it at launch means significant time and money wasted. More importantly it means that patients, with often devastating conditions, will suffer longer without an appropriate diagnosis.

In the commercialization of rare disease therapies, you are often “writing the playbook”, and this requires multiple drafts. RCP will develop, implement, iterate and optimize your strategy from the start, BEFORE a commercial launch, improving outcomes for both your organization and the patients you look to serve.

KOL or Key Opinion Leader Development is a pillar of any successful commercial launch. However, this critical strategic factor is often not given the importance that it merits. Typically, we have seen that this effort does not begin in earnest until mid or in even late phase III when in reality, KOL development cannot begin early enough. These are the physicians who understand the therapeutic area and who may be treating the patients that you want to find. They may be the ones who know how to diagnose or can give you collective feedback about how diagnosis is conducted and where the challenges are. Their knowledge and feedback, willingness to review the data and provide insights, or speak on behalf of a company in support of a particular product because they believe in its transformative properties is immensely valuable and there is no viable substitute. But they can also be a formidable foe if you have not spent the time to build the relationship, share the science and respect their position as a leader in the field.

A common misconception is that to be a KOL you must be aligned with a certain company – be their “friend.” This is unquestionably not the case. A KOL is a prominent leader in their respective therapeutic area. Their designation as a “KOL” is not indicative of their positive affiliation with a company. Some physicians will work with industry, some will not. There may be bad blood due to interactions with predecessors or product competition. Nonetheless, they are a KOL and it’s important any company or commercial team working to launch a rare disease product know who they are, what their position is and maintain a collaborative tone.

It is also regularly taken for granted that anyone can do KOL development – “it’s just talking to a bunch of doctors.” This is definitively not the case. We have seen good relationships turn bad when the interactions were not well managed; a problem that can be very difficult and sometimes impossible to fix. To be effective, interactions with KOLs must be on their level. You must be able to understand the data and articulate it’s benefits and limitations. You need to know how to effectively question and humbly debate and build trust and confidence in not only the team or company you represent, but in what you are trying to accomplish by bringing a product to patients.

At RCP, we have a deep understanding of KOL development. We excel at building long-term relationships with KOLs, including with those who were thought to be “unapproachable” or who “would never work with industry” and maintain relationships with many thought leaders across a variety of therapeutic areas. KOL development is both an art and a skill. RCP does both exceptionally well.

How do you find a needle in a haystack? There are three approaches – you can recruit more people to help look, you can make the needle easier to see and you can decrease the size of the haystack. Which one is best? All of the above. It is not one of these components alone, but the cumulative effect of each part working towards the singular goal.

Recruiting more people to look is essentially KOL Development [see Perspective 3]. Educated specialists are empowered to include a rare disease in their differential diagnosis if they are informed about how that patient will present in their practice.

Making the needle easier to see builds on the first layer by supporting clinical-initiated testing. It is critical to ensure that physicians are familiar with signs/symptoms of the rare disease and that they follow the diagnostic pathway, which will lead them to making the right diagnosis; a fundamental need that will struggle without proper disease awareness and improved diagnostic capability (how to test) and infrastructure (access to the test).

Making the haystack smaller is accomplished through enriched screening programs where physicians screen, past, current and future patients who fall into the enriched populations category for the rare disease you are trying to find.

What seems rather straightforward is actually deceptively complex. In rare disease, the first big hurdle to overcome is disease awareness. Do physicians even know enough about the disease to be able to make a correct diagnosis? Does the disease have disease mimics that can lead to a false diagnosis? Is there a diagnostic code? In the case of a rare genetic disease, can the anomaly be found on a gene panel? Is the gene on phenotypically relevant gene panels? The list of questions is long and beyond the scope of this perspective, but suffice to say that understanding the diagnostic landscape is an essential, but considerable undertaking that requires time and investment to do well.

In addition to clinician-initiated testing and free or no-cost screening programs, partnerships with laboratories and diagnostic experts are critical components of patient finding, which requires professionals who can talk to laboratory directors and diagnostic leaders in their own language.

RCP is adept at developing and implementing successful patient diagnostic strategies globally. We have met these challenges, overcome them and succeeded. We have the knowledge and the capability to ensure a collaborative and cross-functional effort and tactical pull through supported by research and analytics to enable a global patient finding resource independent of geographic or therapeutic area.