In 2023, the European Medicines Agency (EMA) recommended 17 orphan medicines for authorisation, including novel treatments for sickle cell disease, Duchenne muscular dystrophy, chronic hypoparathyroidism, and a variety of rare cancers.[1] Meanwhile, in the US, the Food and Drug Administration approved 45 orphan designated drug new molecular entities (NMEs) that same year – the highest number recorded since 2014.[2]
This is a positive indicator that an increasing number of patients with rare diseases are obtaining access to transformative therapies. However, once an orphan drug has been approved, strong medical strategies and effective KOL engagement can be pivotal in ensuring a successful launch in the marketplace.
Sitting right at the intersection of science, medicine, and business, it is the role of the medical science liaison (MSL) to ensure this. “Medical affairs is about bridging the gap between clinical research and real-world medical practice,” says Mads Ødum, Medical Science Liaison at Abacus Medicine Pharma Services. “For me, the most fulfilling aspect of the job is working together with key opinion leaders and other healthcare professionals to share the latest, most accurate information about new therapies, and the direct and tangible impact this can have on patient outcomes.”
Engagement with KOLs can play a vital role across the development of rare disease medicines since KOLs are in a prime position to advise about gaps in the patient pathway. During clinical trials, KOLs can not only refer their own difficult-to-reach patients for participation but may also attract additional investigators to participate in the trial or refer their own patients.
During the launch phase and across the commercial life of the product, engaging with KOLs not only creates influential advocates for medicines in specific areas where most health professionals have limited knowledge; it also raises awareness of the disease in general. In this blog post, we discuss the challenges involved with engaging KOLs in the rare disease space and how the right approach to medical affairs can ensure long lasting relationships with key stakeholders.
Identifying the experts
According to the European Commission, somewhere between 6,000 and 8,000 distinct rare diseases are estimated to exist today, affecting approximately 36 million people in the EU. While some rare diseases are fairly well known, such as cystic fibrosis and Ehlers-Danlos syndrome, the vast majority are relatively unheard of. With little to no patients in smaller markets such as Iceland or Luxembourg and very few even in more populated countries, disease specialists can be hard to come by. Tracking them down requires a highly targeted approach, says Ødum, who believes the power of in-person networking is essential when the available data can only get you so far.
Nevertheless, where particularly rare diseases are concerned, specialists could be hard to identify because they are often limited to a small number of centres around the world. Smaller markets often lack a structured approach to treating rare diseases, having no centres of excellence and no networks for redirecting patients and sharing patient experiences. It could even be possible that a clinician has only seen five or six patients with that disease across their career.
“There can certainly be clinicians at some hospitals that will not have had extensive exposure to a specific disease and its profile. This calls for more support with general disease awareness amongst a variety of stakeholders like KOLs, patient advocacy groups and local payers, as well as peer-to-peer discussions with clinicians. All of this can be difficult to execute and something of a hurdle for some smaller pharmaceutical companies. However, without this shared awareness it is quite possible that patients may go undiagnosed for years,” says Ødum.
Indeed, statistics from Eurordis show that it can take patients an average of five years to receive a diagnosis for a rare disease, with 44% having to consult with more than four healthcare professionals across that journey.
Engaging the KOL
Once the MSL has identified the necessary KOLs to speak to, finding time with these busy clinicians could be their next major challenge. Given the tiny patient populations of rare diseases, the disease of concern may make up a very small part of the clinician’s practice. In addition, with clinical responsibilities, training obligations, and research activities all contributing to a very busy workload for the KOL, meeting with pharmaceutical companies is another minor aspect of their professional duties – and there could be several different pharmaceutical representatives vying for their time.
“There’s such a small KOL pool; there’s not enough of them to talk to. Everybody wants a piece of their time, and their priority focus is always going to be looking after patients,” comments Maxine Hamilton, Vice President Medical & Technical Services at Abacus Medicine Pharma Services.
All of these factors combine to mean the KOL could have very limited time for discussing scientific advancements in a rare disease field with pharmaceutical companies. Nevertheless, where novel treatments for patients with a very high unmet medical need are concerned, KOLs are normally very willing to engage.
Building the relationship
Once time has been scheduled with the KOL, the manner in which the MSL conducts the all-important meeting is crucial. Unless specifically requested by the KOL, inundating them with a large volume of data may not be an effective strategy.
“Across the board there are significant demands on any KOL’s time and with so many new treatments coming to the market, all of which aim to provide benefits to a niche group of patients, we have to be ever mindful and respectful of the competing priorities these HCPs face,” says Ødum.
As such, getting any communication right is critical. However, the right approach is a highly tailored one depending on the individual, their communication preferences, and what they aim to get out of the exchange, believe both Hamilton and Ødum. It is not simply about walking into a room and starting a conversation; when engaging any KOL, it is important to consider all aspects including available time and geography, as well as the medium through which the conversation takes place. Today, video conferencing has become an effective tool enabling MSLs to conduct appointments across different markets, but in-person meetings remain the most effective way of building trust and rapport in many cases.
“It’s really important to make sure that any engagement you have with the KOL is of value to them; you’ve understood what their requirements are and you’re then tailoring any discussions around where they’re seeing the priorities in moving medicine and treatment forward,” notes Ødum.
Integrated medical affairs solutions at Abacus Medicine Pharma Services
KOL engagement is a crucial element in driving the adoption of new therapies in rare disease populations. However, it presents several significant challenges – from identifying and finding time with the right healthcare professionals to building long-lasting relationships that continue to be of value to the KOL.
As KOLs continue to expect more and more from MSLs, and the constraints on their available time grow, it is essential for the medical affairs team to foster value-driven partnerships. Abacus Medicine Pharma Services has built relationships with a large network of KOLs who are at the forefront of patient treatment in their respective fields, from genetic and metabolic disorders to haematology, oncology, and neurology. Working across many different therapeutic areas and European markets, the team has a broad understanding of the region’s various healthcare ecosystems and compliance rules.
Agile and quick to move, the company provides expert services across the entire commercialisation journey for rare disease products, from market access and medical affairs to pan-European distribution and pharmacovigilance. With the ultimate goal of ensuring better medicines access for patients with high unmet needs, Abacus Medicine Pharma Services delivers effective commercialisation solutions for global pharmaceutical and biotech businesses serving rare disease patients.
