Rare Disease round-up 2019
As the end of 2019 approaches, rare diseases still affect the lives of around 3 million people in the UK alone1 as well as an untold number going through the seemingly endless “diagnostic odyssey” so often associated with rare disease2. However, as we look towards the year-end, it’s a perfect opportunity to raise a glass and cheer some of the many great people and activities that have pushed the rare-diseases agenda forward during the year. Here are a few of our highlights:
Treatment and regulatory landscape
There have been 81 new orphan-drug approvals in the United States (US) during 20193 and 101 drugs also being given orphan status in Europe4. Each represents an exciting new opportunity for rare-disease patients. Science has also advanced during 2019 with over 300 new scientific papers posted on ‘Biorxiv’5, where researchers can share their findings openly with the public before they’re published. Information will not have been reviewed, but this willingness to share findings as they happen is a big step towards breaking down the paywall between advances in scientific knowledge and those who need it. One example of lab-science advance, was the identification of a new biomarker (biological ‘signature’) that can be found in a blood sample and used to diagnose the rare autoimmune disease myasthenia gravis7.
The regulatory landscape too has evolved during 2019. The year started with the US regulators releasing draft guidance to help researchers navigate some of the specific hurdles found when conducting trials of potential rare disease therapies6. This was followed in March by the introduction of the rare diseases act in the house of representatives8 and the World Health Organisation resolution to improve the transparency of markets for drugs, vaccines and other health-related technologies9. There were also early signs that real-world health data are becoming more acceptable in submission packages to authorities. In October 2019, the US regulators agreed to review information for using Triheptanoin to treat long-chain fatty acid oxidation disorders10. Although the results of this review will not be available until 2020, the fact that the information was deemed suitable for assessment is hugely positive as 41% (n = 87/211) of people contributing data for this submission received their treatment either through ‘compassionate use’ or ‘expanded-access’ approaches rather than in ‘traditional’ trials10.
Communities, collaboration and empowerment
Our strength in the rare-diseases community continues to lie in our ability to collaborate and work together to drive change. The year started with a bang: February was home to the 12th Rare diseases day where patients, families, researchers and policy makers joined together to raise awareness for rare diseases all over the world and particularly focus on bridging the gap between health and social care11. In the same month China made huge progress in their approach to rare disease diagnosis and treatment. The National Health Commission in China established a new network of 324 hospitals nationwide with the aim of identifying practical solutions for effective collaboration, treatment access, research, drug supply and quality control12. The goal is to achieve a consistent mechanism to manage rare diseases efficiently and to a high standard for all citizens.
Eurordis continued to be a leader in the field and were pivotal to the foresight study aiming to shape the long-term future of rare-disease policy so that needs of the rare disease community can be met13. National Organization for Rare Disorders (NORD) also held a 2-day conference to support and strengthen patient involvement in clinical research and discuss models for future patient-focused drug-development14. We ourselves held our first twitter-chat to identify common aims and requirements for the involvement of patients in research.
Thanks to all involved, in just one hour, we identified a remarkable list of opportunities for advancement (see picture). Then at the year end the Rare Disease Film Festival highlighted it all – with films across the whole scope of activities describing the unity and common aims of patients and researches to find improved diagnostics and treatment options for the rare disease population15.
Integration of advanced technology brings the potential for huge improvements in linking communities, experts, researchers, data collection and earlier decisions. Approximately 80% of rare diseases have a genetic component16. Genes are usually tested for in ‘panels – a series of gene assessments collected into one test. This year one of the major genetic testing approaches, ‘Next Generation Sequencing’ (NGS), released a new panel specifically for rare and inherited diseases. This on its own is progress but, as with all rare diseases, the key to understanding is how to link genetics with other information and diagnose the condition. Excitingly, this panel has been released along with advanced digital bioinformatics to predict diagnosis and provide evidence-based, actionable insights17. Artificial intelligence (AI) was also used in 2019 by scientists from Brussels to improve rare disease diagnosis. They produced the ‘VarCoPP algorithm’, which tests huge numbers of gene-pair combinations to predict their potential for causing disease (their pathogenicity). When told to search a database and find 23 known disease-causing genetic signatures, VarCoPP managed to rapidly do this and return results with 95% – 99% accuracy. Future tests will try to apply this approach to previously unrecognised gene-signatures and help doctors zoom in on the most important predictions18.
Several data platforms were also established this year – all of which aim to facilitate the use of information to advance diagnosis and treatments, whilst ensuring correct sharing and use of data by the rare-diseases community. NORD’s new platform is the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). This was funded by the US regulators and aims to provide researchers a way of systematically collecting, using, and analysing rare-disease data to inform long-term drug development and support innovative trial designs19. In the UK, Health Data Research (HDR) initiated a new project to produce a cloud-based approach for the integration of phenotype and genotype data for rare disease research. This aim is to make recent advances in clinical imaging, pathology, and genomic technologies more actionable (i.e. lead to more diagnoses and treatment options) through integration with National Health Service (NHS) data. In addition to providing the data standards and integration, the HDR team are also developing a secure analysis environment for researchers. The Rare Diseases Registry Program (RaDaR) was also established and has a different take on technological empowerment. Rather than set up one platform themselves, they launched a toolkit to empower the community to set up registries and gather data in the correct way for use in future research21.
As the end of 2019 rapidly approaches, the rare diseases community can be proud of all that has been achieved throughout the year. Through connectivity, vision, and drive to succeed, advances have been made across the board: new treatments, policy changes, patient and family integration into research, and technologies to push the boundaries further. Swii.ch Health Ltd want to thank you to everyone involved and look towards an exciting 2020 filled with potential.
20 https://www.hdruk.ac.uk/projects/cloud-based-integration-of-phenotype-and-genotype-data-for-rare-disease-research/ 21 https://registries.ncats.nih.gov/