Around the world, roughly 300 million individuals are living with a rare disease, 70% of which start in childhood. Most rare diseases are debilitating and even life-threatening. In fact, according to studies, between 57.5% and 65% of rare diseases are associated with reduced life expectancy.
The vast majority of rare diseases have a genetic cause, with well-known examples including cystic fibrosis, sickle cell disease, Huntingdon’s, and various muscular atrophies and dystrophies. While these examples have been well-studied, there are many more rare disease types that much less is known about.
With a distinct lack of scientific information available, the journey to receiving an orphan disease diagnosis can be long and difficult. There are 7,000 known rare diseases, most of which non-specialist healthcare professionals have never encountered before. This often puts patients in difficult situations where they are passed between doctors until a correct diagnosis is reached. The process takes an average of four to nine years in high-income countries, a contributing factor behind the sad story that as many as 50% of Europe’s rare disease patients currently remain undiagnosed.
Even after a diagnosis has been reached, treating the disease can be an even bigger challenge. It is well-reported that approximately 95% of all rare diseases currently have no available therapies. For many years, the pharmaceutical industry has been accused of overlooking this patient population by instead targeting investments toward more prevalent indications. Under standard market conditions, there is certainly very limited commercial reason for a pharmaceutical company to invest upwards of hundreds of millions in developing an asset that, upon launch, may only be prescribed to a small number of patients.
Change starts with awareness
According to the organisation behind Rare Disease Day, rare disease patients are very likely to face “misdiagnosis, treatment inequality, and isolation” across their lifetimes. First established in 2008, Rare Disease Day is observed every 28 February, with events set up across more than 100 countries in 2023 to unite the world in raising awareness. On leap years, the event is observed on 29 February – the rarest date in the calendar.
Improved awareness can play a critical role in early detection and intervention of rare diseases. In addition, by uniting patients, health workers, and the general public alongside researchers, policymakers, and industry representatives, awareness events like Rare Disease Day can help drive the systemic change and economic incentives needed to stimulate rare disease research.
Orphan drug development is expanding
Change is happening. 1983 was a pivotal year for the rare disease community, with the US Food and Drug Administration’s introduction of the Orphan Drug Act. This law entitles any drug with an Orphan Drug Designation to certain incentives, including tax credits for qualified clinical trials, exemption from user fees, and the potential for seven years of market exclusivity after approval.
With similar incentives offered by EU/EEA and UK law, orphan drug development has taken off. Based on Pharmaceutical Technology’s analysis of GlobalData’s drugs database, a steep rise can be seen in the number of drugs receiving orphan drug designations in recent decades. In the years between 2001-2010, a total of 1,527 designations were granted – almost triple the amount seen across the previous 17 years. During the following decade (2010-2021), total designations more than doubled again.
The next generation of orphan drug launches
Looking at some of the more recent orphan drug approvals, it is clear that advancements in genomic medicine are now shaping the next generation. With most rare diseases rooted in a genetic cause, it makes sense that gene therapies such as Zolgensma (an orphan medicine approved by the EMA in 2020 for spinal muscular atrophy) now show huge potential for curing patients.
The stakes are high when launching an orphan drug product, however. The EU market offers major opportunities for pharmaceutical companies with an orphan drug designation, but accessing it can be difficult and may require the help of a service provider with a demonstrable track record of launching and distributing speciality medicines there.
The Commercial Partnerships division within Abacus Medicine Pharma Services has supported pharmaceutical partners in the successful European launch of a range of orphan drug assets, with particularly valuable expertise in key markets outside of the EU-5 such as BENELUX and the Nordics.
“In Commercial Partnerships, we enable rare disease patients to receive vital treatments by providing manufacturers with greater access to European markets that would otherwise be unreachable with their own resources,” explains Kasper Yde, EVP Commercial Partnerships. “By doing so, we not only help patients, but also support manufacturers to further invest in rare disease medicines.”
Marco André Wulff, Commercial Strategy & Market Access Director, adds: “Our team of experienced specialists can provide services ranging from medical affairs outreach and market access support, to commercial strategy development and tender management. Our team understands the specific needs of rare disease medicines and how our services can increase accessibility, always keeping best interests of patients in mind.”
To read how the team helped one of its partners with the multi-market EU launch, promotion and distribution of a rare disease drug, download the case study below.