Evie's story

28 February 2017 marks the tenth international Rare Disease Day, and its strapline this year is 'with research, possibilities are limitless'. Held every year on the last day of February, Rare Disease Day raises awareness of the 6000+ rare diseases found around the world, each affecting somewhere between a handful and a few hundred thousand people. Around 80% of rare or ‘orphan’ diseases have a genetic origin, and 75% of rare diseases affect children.

There are treatments available for some rare diseases, but diagnosis may be difficult and because symptoms may be relatively non-specific, misdiagnosis or missed diagnosis are common. This is compounded when symptoms of a single disease vary between individuals. Once a patient is correctly diagnosed, they can find that care may not be available locally, so patients and their families may have to travel many miles to get the treatment they need. These challenges make patient-centric care particularly important in people with rare diseases.

Changing biopharma’s focus towards rare diseases

As competition increases within therapeutics for the more common and chronic conditions – often described as the ‘low hanging fruit’ – biopharma development is increasingly focusing on opportunities to meet patient needs within rare diseases. These are often the first drug specifically indicated for a particular rare disorder, so there is a lot riding on their success. However, because R&D timelines are compressed and clinical trial sizes much smaller, there is a certain degree of risk in their development as well as post approval regulatory requirements.

Looking at rare disease from the patient’s perspective

Providing patient-centric programs around treatments for rare diseases, whether tablet, injectable or inhalation, is a complex challenge, because these must take into account the requirements of the families and carers as well as the patients. They must also be flexible, as different patients with the same disease may have different needs, and these needs are likely to change as their disease progresses and the patient gets older.

By their very nature, many doctors may only see a handful of patients with rare diseases. In contrast, patients’ parents and carers, and the patients themselves, are likely to have built up a lot of knowledge and expertise through everyday hands on care, through networks of other families, and by getting involved in patient groups. They may have had to fight for diagnosis and treatment, and may have concerns about their future. While some rare diseases are life-limiting or life-threatening, in others, patients will grow up and live independently, and their needs for care and treatment will evolve over time.

Creating patient-centric support programs for rare diseases

Understanding the rare disease from the patient’s perspective will provide vital insight into creating patient-centric programs that meet the needs of the patient and family but that can be tailored to the individual circumstance, and to the points on life and patient journeys. As many of the patients with rare diseases are children, with different levels of cognition according to their age and the type of disease, the design of the support program, from personal support to apps and wearables, needs to take this into account. For instance, a 6-year old child with a disorder that is managed very carefully with behaviour modification as well as medication cannot be treated the same as a teenager who is starting to create a life outside their home and family.

A number of therapeutics for rare diseases gain accelerated approval on a limited patient population and a small number of clinical trials. This has the benefit that the drugs reach the patients more quickly, but the approval is only conditional. Because of this, the support program needs to be able to track patient outcomes and benefits, and flag up any safety issues that may emerge. This data can then be used to support full approval.

To be effective in rare diseases, where patients are likely to be spread across long distances, patient support programs need to be well co-ordinated, and the mode of delivery for the information and support has to be considered carefully. Here, digital approaches can be very powerful, with one-on-one contact through Skype, and educational material available through apps and websites.

A single support program cannot meet all the needs of all the people, and so to be effective for the patients and carers, and to be cost-effective for the physicians and payers, it’s important to focus on the greatest need, which may be specific to one point in the pathway of a single disease, or potentially work across a number of different conditions.