The future of treating rare diseases

Responsive and responsible leadership is the central theme of this year’s World Economic Forum meeting in Davos. For the biopharma industry, I believe our core contribution is innovation: we must focus on developing new medicines that address unmet medical needs and deliver value for all of those affected.

Rare diseases pose a significant medical and economic burden for patients, communities and healthcare systems. A rare disease, sometimes referred to as an orphan disease, is any disease that affects a small percentage of the general population. In the US, a condition is considered rare if it affects fewer than 200,000 people. International definitions of rare diseases vary: in the UK, for example, a disease is considered rare if it affects fewer than 50,000 people. Most rare diseases are genetic and are present throughout a person's entire life, even if symptoms do not immediately appear.

There are more than 7,000 known rare diseases, including hemophilia, Gaucher disease, Hunter syndrome and many forms of rare cancer. It is estimated that rare diseases affect 350 million people worldwide. Millions more have specialized conditions. What these figures do not reflect is the untold number of mothers, fathers, friends and family who watch a loved one live with health challenges, which, in many cases, cannot be adequately addressed today. Nearly 50% of the time these loved ones are children.

What is more, delays to diagnosis are commonly experienced by patients with rare diseases and can lead to serious consequences for their health, as well as the wider healthcare system. For example in the UK and the US, the average time to obtain a correct diagnosis is five to seven years. Delays can be even longer at times, causing a prolonged period of uncertainty and burden for many patients and their families.

Despite the tremendous unmet need in this area, limited progress has been made. There are many reasons for this – the drug discovery and development process for rare diseases and specialized conditions is complex. For an “ordinary” disease, developing a drug is a risky and difficult proposition requiring millions of dollars and more than a decade of dedicated research and development. Often, the result is failure and dead ends. However, when developing therapies for rare diseases with small patient populations, the obstacles are even more difficult to overcome. For example, there are considerable logistical challenges associated with conducting global trials for small patient populations. During the clinical trials for idursulfase, our treatment for Hunter syndrome, Shire recruited 96 patients, making this the largest ever rare disease study at that point in time. To enrol sufficient patient numbers, Shire had to open 15 sites globally. Even with 15 sites, entire families had to be relocated, sometimes from one country to another.

To make sustained progress, public-private partnerships are key. We need to work with stakeholders across the healthcare ecosystem to more effectively address the challenges that make research and development for rare diseases difficult, and be better equipped to bring new treatments to patients. For example, we need to work with regulatory authorities, key opinion leaders, patient advocacy organizations and non-traditional players, like technology companies, to create more effective clinical trial designs that consider the very special and unique circumstances of rare disease research. Today there is no precedent for clinical study design or even the endpoints clinical research must meet. We need to develop innovative trial designs that recognize the small patient populations these conditions affect and the limited amount of data that can be drawn from these communities, owing to their size.

There is also a huge opportunity to design a regulatory pathway that is specific for rare diseases. As an industry, we need to support the ongoing efforts to engage with policy-makers and regulatory authorities, such as the Food and Drug Administration (FDA) and European Medicines Agency (EMA), to design a pathway that would enable early registration, engagement, breakthrough therapy designation and faster approvals.

As the industry continues to develop new treatments, countries need to develop their infrastructure so that patients can have access. Rare disease treatments often require cold chain, a temperature-controlled supply chain, which is not readily available in all countries. We can work together with local governments and NGOs to enhance infrastructure and access to specialized care for patients with rare conditions.

Finally, but perhaps most important, is education and awareness. Expertise in rare diseases is limited, even among healthcare professionals. To reach patients, we need to work closely with healthcare professionals, NGOs and patient advocacy organizations, like the World Federation of Hemophilia, to raise the profile of rare conditions and the impact they have on society.

While each rare disease community is small on its own, together they make one large rare disease population of patients, families and carers. They all need solutions and we have a responsibility to help them. That’s why we’re calling on stakeholders across the healthcare ecosystem to learn more about the rare disease patient journey. We’re asking them to join us in helping the millions of patients and their families waiting for a cure or, at least, the ability to live their lives to the fullest.