Significant strides have been made across the country towards delivering the commitments made in 2013’s UK Strategy for Rare Diseases, but the first progress report since its launch also shows that much remains to be done to improve the care of patients. 

The strategy is comprised of 52 commitments that each UK nation has promised to take forward by 2020, in the hope of securing the best use of available resources, maximising health gains for all those with rare conditions, and creating a framework for the research essential for the development of new therapies that address unmet medical needs.  

Highlighting area of progress, the report notes that 100,000 Genomes Project in particular will transform molecular diagnostics and that the creation of a unified registry of rare disease patients by Public Health England will have a significant impact on research for rare diseases.

Also, the role and importance of patients in the planning and delivery of care continues to grow, and there are “excellent examples” of where the patient voice has been central to the design of new services and has provided key insights into the value and potential benefit of new treatments, noted Chair of Rare Disease UK, Alastair Kent OBE. 

Increase in high-quality info

In the report foreword, Kent also applauds “a considerable increase in the availability of high-quality information for rare diseases” since the Strategy’s publication, and says pharma is recognising that better understanding of rare human conditions can provide “unique and powerful insights into human biology and can directly influence the delivery of more targeted and effective technologies”.

However, experts are also calling for greater collaboration across the UK to accelerate progress. “Much of the care for patients with rare diseases is most effectively delivered via a small number of specialised centres and facilitating this will require careful UK-wide coordinated approaches to ensure patients all receive the best available care,” according to Kent. 

The time to obtain a correct diagnosis can still take far too long and represents an inefficient use of resources, and the report argues that industry has an important role to play in improving diagnoses, both in supporting the development of tests to identify rare diseases and the subsequent testing for stratified medicines for treatment.

“The needs of patients and families with rare diseases are now acknowledged in ways that would have been unimaginable only a few years ago, but much remains to be done to meet the ambitious commitment to improve care and support for rare disease patients in the original strategy by 2020,” Kent concluded.   

Virginia Acha, executive director of Research, Medical & Innovation at the Association of the British Pharmaceutical Industry, said pharma supports a national strategy on rare diseases which makes it easier for patients to access the medicines they need, but also stressed that there are “significant challenges in finding new medicines,” which “can’t be solved by the pharmaceutical industry alone”. 

Nevertheless, a growing number of companies are seemingly going beyond their treatments forging closer links with patients to better understand rare diseases and help raise awareness of them.

Boehringer’s Inspiration

Boehringer Ingelheim UK has this week launched two new initiatives to support people living with the rare and incurable lung-scarring disease idiopathic pulmonary fibrosis: Inspiration magazine, a one-off collaboration between patients, patient groups and globally renowned clinicians; and an international survey providing unique insights into the emotional truths of living with the disease.

The Inspiration report aims to raise awareness of IPF, and thus help drive improvement in the diagnosis and treatment of patients. It notes that 50% of patients are misdiagnosed, and that, according to the British Lung Foundation, with rates steadily rising the disease already kills more people than leukaemia, “a condition that has benefited from greater awareness and research funding”.

Elsewhere, Roche launched its, a website which aims to encourage everyone with an interest in IPF to take action to ensure that all those living with the disease receive a timely and accurate diagnosis and appropriate care from a specialist multidisciplinary team.

Also marking International Rare Disease Day 2016, Sanofi Genzyme premiered a short film based on artwork produced through its Expression of Hope global disease awareness programme, featuring works of art created by people affected by lysosomal storage disorders (LSDs).