Question to the Department of Health and Social Care:

To ask the Secretary of State for Health, what steps he has taken to help early diagnosis of (a) lysosomal acid lipase deficiency and (b) other very rare diseases; and what research his Department has commissioned into innovative medicines for ultra-rare diseases which have a substantial medical impact.

The UK Strategy for Rare Diseases commits all four countries of the United Kingdom to work to achieve reduced times for diagnosis of rare diseases and to work with the National Health Service and clinicians to establish appropriate diagnostic pathways which are accessible to, and understood by, professionals and patients.

NHS England commissions a highly specialised service for liver disease in children, including cirrhosis resulting from lysosomal acid lipase deficiency, from three expert centres in London, Birmingham and Leeds. These long established centres provide a clear referral pathway for expert diagnosis and management and are well known to paediatricians across England.

The Department’s National Institute for Health Research (NIHR) funds a range of research relating to medicines for very rare diseases. The NIHR Rare Diseases Translational Research Collaboration (TRC) provides world-class NHS research infrastructure to support fundamental discoveries and translational research on rare diseases. At its core, this TRC is formed from NIHR biomedical research centres and units, and NIHR clinical research facilities, all with research expertise into rare diseases, facilities and capacity. With investment of £20 million over four years, the NIHR Rare Diseases TRC will help to increase research collaboration across the NIHR infrastructure.

In March 2014, the Government launched the NIHR BioResource to provide a national cohort of healthy volunteers, patients and their relatives who wish to participate in experimental medicine research, the initial focus for the BioResource includes rare diseases. These studies will have the potential to rapidly advance the understanding of disease mechanisms, identify potential drug targets, and improve insight into the therapeutic potential and limitations of existing and emerging therapies.