As briefly mentioned in last week’s blog, the inaugural conference of the International Rare Disease Research Consortium (IRDiRC) was held in Dublin earlier this month. The conference brought together researchers, clinicians, policy makers and patient organisations from across the globe to share recent successes in the field of rare disease research and to discuss how the field should develop in order to make therapies accessible to patients as quickly as possible.
IRDiRC aims to develop 200 new therapies and the means to diagnose most rare diseases by 2020, and has committed to spend €500 million in order to achieve this goal. Indeed, since IRDiRC was founded in 2010, 64 new rare diseases therapies have been developed through IRDiRC projects, meaning that excellent progress is already being made. However, given that there are estimated to be between 6000-8000 rare diseases, even at this rate, it would take hundreds of years to develop therapies for all of these diseases.
To address this problem, the NIH has set up a National Centre for Advancing Translational Sciences (NCATS), which was introduced to the consortium by Dr Christopher Austin. Because the field of rare diseases is so large and varied, a “one size fits all” approach will not be effective in developing therapies for every disease. Rather than focussing on a particular disease, NCATS researches new methods of developing therapies. One such project they are working on in collaboration with the Office for Rare Disease Research (ORDR) is the development of a tissue chip, containing human tissues and “wired up” to mimic organ function. Once developed, this chip will be used for preliminary toxicity tests for new drugs, meaning that the most dangerous drugs will not reach clinical trials and be tested in people.
Another encouraging development reported at the conference was data showing that gene therapies are providing clinical benefit in patients. Dr Katherine High spoke about the use of adeno-associated virus vectors, which can be used to correct gene function in patients with genetic disorders. The first treatment of this type, Glybera, was licensed in Europe in November 2012 for individuals with Lipoprotein Lipase Deficiency (Kastelein et al., 2013). There are currently more than 1000 phase III gene therapy trials listed on clinicaltrials.gov, suggesting that this is likely to prove a viable cure for a number of rare diseases.
A major theme of the conference was the need for collaboration at all levels to effectively tackle such a complicated and far-reaching problem as rare diseases. Firstly, researchers and clinicians must collaborate to share resources and knowledge. To this end, both IRDiRC and NCATS actively seek to facilitate and fund large-scale collaborative projects. Secondly, patient registries need to be set up in order to ensure patients are getting the correct care and treatment, and to identify patients that might be eligible to participate in research or clinical trials. Additionally, patient registries are essential for natural history and epidemiology studies, which have thus far not been possible for the majority of rare diseases. Setting up a useful patient registry will require multicentre collaboration and infrastructure requiring input from patients, clinicians and researchers to ensure it serves the needs of all parties. Thirdly, patients need to collaborate with one another. Lesley Murphy of RARE Voices, Australia, spoke of the need to unify the activities of all rare disease organisations into a single entity, providing a single, clear message and greatly increasing the success of lobbying and advocacy activities.
The take-home message of the conference was one of great hope, as the founders and members of IRDiRC are committed and passionate about effecting change in the care and treatment of patients with rare diseases. It is expected that this will be achieved through increased funding of rare diseases projects and by developing a culture of collaboration. With 64 rare disease therapies having been developed since 2010, it seems that IRDiRC is already changing the lives of patients with rare diseases.
- Kastelein JJ, Ross CJ, & Hayden MR (2013). From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World. Human gene therapy PMID: 23578007
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.