Rare Disease Day 2017: focus on research

28 February 2017

Today, 28 February 2017, marks the 10th international Rare Disease Day and this year’s theme is ‘Research‘. Approximately 95% of rare diseases do not have an approved treatment. At Oxford PharmaGenesis, we are passionate about working with our clients to bring new therapies to all those families patiently waiting for them. Here, we present some insights into the latest Rare Disease research initiatives.

Rare Disease Day was founded by the European Organisation for Rare Diseases (EURORDIS), an alliance of organizations and individuals who represent those with rare diseases in Europe, in order to raise awareness about rare diseases as a public health issue. The first Rare Disease Day was celebrated in Europe on 29 February 2008, this day being chosen because it is, in itself, rare. The following year, the National Organization for Rare Disorders (NORD), the US counterpart of EURORDIS, joined the initiative and Rare Disease Day has been celebrated on the last day of February ever since. It has grown in popularity each year, with more than 90 countries expected to host events this year.

In Europe, a rare disease is defined as one that affects fewer than 1 in 2000 people. There are estimated to be about 6000–8000 rare diseases, many of which are chronic and debilitating. It is therefore thought that as many as 6–8% of the European population (or roughly 1 in 14 people) have a rare disease, meaning that rare diseases affect a huge number of people. Approximately 80% are genetic, and half affect children, a third of whom are predicted to die before their 5th birthday.

Despite having different conditions, patients with rare diseases often face a very similar set of challenges. In particular, a lack of awareness of these diseases among doctors means that many patients wait a long time to receive a diagnosis or experience difficulty in finding doctors with relevant expertise. Furthermore, there is often no effective treatment or cure available: 95% of rare diseases do not have an approved treatment and only 326 new orphan drugs were brought to market in the 25 years following the Orphan Drug Act, which was passed in 1983. At that rate, it would take approximately 500 years to develop therapies for all rare diseases.

There is, however, reason for hope. Since its creation, the International Rare Disease Research Consortium (IRDiRC) has made excellent progress in its aims to speed up diagnosis and treatment development for rare diseases, with the genes for nearly 600 rare diseases having been discovered and 222 new therapies having been authorized since 2010.

Drug repurposing is also a promising area for patients and their families. Although it can take decades and billions of dollars to develop a new treatment, drug repurposing takes existing drugs and tests them as therapies for diseases for which no treatment is yet available, saving both money and time. Early successes include the repurposing of thalidomide for treating patients with leprosy, multiple myeloma or bone marrow cancer. Drug repurposing is a particularly valuable approach for identifying new treatments for rare and neglected diseases, where there is a high unmet medical need, and a number of rare disease organizations such as Findacure, Cures Within Reach, Healx and IRDiRC fund and promote this research.

Of course, any new therapies need to be tested in a clinical trial to ensure that they are effective. Organizations such as INVOLVE in the UK aim to educate and empower patients to seek out and take part in appropriate clinical trials.

In addition to finding new therapies for patients with rare diseases, INNOVCare, an ongoing EU research initiative that is managed and part-funded by EURORDIS, will provide valuable insights into quality of life, social needs and integration for individuals with rare diseases, as well as the education of social service providers.

These are just tiny snapshots of the various initiatives that are helping to improve the lives of people with rare diseases. If you would like to read more about how research can help patients and how, as a patient, you can get involved in research, please visit the Rare Disease Day 2017 website.

Rare Diseases Day 2017