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Themed call: Very rare diseases (2012)

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Published: 12 February 2020

Version: 1.0

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Background

Opened: September 2012

Closed: December 2012

In 2012 we invited applications for research into interventions for Very rare diseases.  

For the purpose of this call, a very rare disease was defined as one that affects less than 1 in 100,000 of the general population, particularly those whose specialist care is provided through centres funded by the National Specialised Commissioning Group (NSCG) and equivalent arrangements from April 2013. Applications exploring the organisation of super specialised services or their commissioning were considered where these fitted under the remit of participating programmes.

Individuals who suffer from a very rare disease are often at a disadvantage due to the small number of people affected by the disease and the complexity of symptoms.  In February 2012 the Department of Health launched its consultation of the UK’s first plan of rare diseases (UK Health Departments, 2012).

It identified that sufferers of rare diseases face a number of obstacles to receiving appropriate care. These can result from the limited scientific and clinical knowledge of the disease, leading to delays in diagnosis as well as the limited number of therapies of proven effectiveness. The availability of high quality evidence-based information and support at the time of diagnosis is important.

Applications that were multidisciplinary in nature were encouraged. Due to the rarity of the conditions innovative study designs or approaches to recruitment were also encouraged. Applications for the UK arm of multinational trials either led from the UK or as a participating country were also considered. The inclusion of patient views and experiences were considered important by each participating programme.

Participating programmes

The participating programmes were:

Efficacy and Mechanism Evaluation (EME) Programme

Health Services and Delivery Research (HS&DR) Programme

Health Technology Assessment (HTA) Programme

Invention for Innovation (i4i) Programme

Programme Grants for Applied Research (PGfAR) Programme

Research for Patient Benefit (RfPB) Programme

Funded research

For more information on research funded in this area, please visit NIHR Open Data - very rare diseases.