Patients will benefit from a wide range of new research projects into very rare diseases with funding from the National Institute for Health Research (NIHR).
A 'very rare disease' is a life-threatening or chronically debilitating condition that affects less than 1 person in 100,000. Patients can require special - often complex - care to enable them to be treated effectively.
Very rare diseases include conditions like some childhood cancers, and Juvenile Huntington's Disease. At least 80 percent of these diseases have an identified genetic origin and 50 percent of new cases are in children. Other causes include infections, allergies, deterioration of body tissues and organs and disorders that occur to a foetus in the womb. Some patients have multiple conditions that make treating and managing their very rare disease even more challenging.
The total number of very rare diseases is steadily increasing because genetic research is beginning to explain disease patterns that we did not understand before.
Professor Dame Sally C. Davies FRS FMedSci, Chief Medical Officer and Chief Scientific Adviser at the Department of Health said:
"The NIHR is committed to funding new research to increase scientific and clinical knowledge of very rare diseases, so that we can prevent delays in diagnosis and improve health outcomes. Patients face a number of obstacles to receiving appropriate care and it is vital that we provide them with the most up to date high-quality evidence-based treatment."
Alastair Kent OBE, Director of Genetic Alliance UK, Chair of Rare Disease UK said:
"The decision to support research into very rare diseases will delight patients and families affected by these conditions. High quality medical research is key to advancing our knowledge and to paving the way to the development of therapies that will improve the quality and/or quantity of life for those affected. Just because your condition is very rare does not mean that your needs can be ignored or side-lined, and this announcement is a welcome acknowledgement by the NIHR of its responsibility to address the needs of all patients, and to play a role in the development of high quality healthcare for all users of the NHS, irrespective of the numbers affected."
The projects funded from this NIHR call for proposals cover a wide range of research areas and interventions and were assessed for importance to the NHS, patients and public, scientific quality, feasibility and value for money. Some of them are already getting underway.All these research projects aim to provide better care for people with very rare diseases."
One study is undertaking a series of systematic reviews of treatments for central nervous system tumours in children. Tumours of the brain and spinal cord - often known as central nervous system (CNS) tumours - are very rare in children and young people. When they do occur they are difficult to treat, with patients more likely to die from these tumours than other tumours found elsewhere in the body. The study, led by Ms Jayne Wilson of the Cancer Research UK Clinical Trials Unit, University of Birmingham in partnership with Birmingham Children's Hospital NHS Foundations Trust and a national network of expert clinicians, will gather information about how well different treatments for CNS tumours work in order to identify any gaps and to plan future research.
Another study, led by Dr Oliver Quarrell of the Sheffield Children's NHS Foundation Trust will be assessing services for Juvenile Huntington's Disease (JHD). Huntington's Disease is a chronic progressive neurodegenerative condition with the needs of patients varying over time. There is no disease modifying treatment so interventions are symptomatic and supportive. JHD is a rare form of the condition which starts before the age of 20. This study will aim to obtain the views of patients, carers and professionals delivering services on the current service provision for JHD as well as their perception of improvements which could be made.
NIHR research programmes continue to encourage proposals through their researcher-led funding stream addressing rare diseases research in areas not otherwise well-covered in their portfolios. All NIHR funding opportunities can be viewed at www.nihr.ac.uk/proposals/Pages/default.aspx