Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps his Department is taking to help improve (a) rates of early diagnosis, (b) access to treatment and (c) specialist care for people with Duchenne Muscular Dystrophy.

The Government is committed to improving the lives of those living with rare diseases, such as Duchenne muscular dystrophy (DMD), by supporting earlier diagnosis, improving access to treatment, and enhancing specialist care. Under the England Rare Diseases Action Plan 2025, we remain focused on delivering against the four key priorities set out in the UK Rare Diseases Framework. The 2025 England Rare Diseases Action Plan was published on 28 February 2025, and is available at the following link:

https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2025.

To support earlier diagnosis, we are digitalising the National Genomic Test Directory to improve access to genomic testing, and have established eight Genomic Networks of Excellence to standardise services and speed up diagnoses.

We are improving access to treatment for rare conditions like DMD by reforming clinical trial regulations through the Medicines and Healthcare products Regulatory Agency (MHRA), which facilitates the development and approval of new therapies.

Progress is also being made on repurposing existing medicines and advancing new therapies, to expand treatment options. The National Institute for Health and Care Excellence (NICE) plays a key role by making recommendations on which licensed medicines should be routinely funded by the National Health Service, based on an assessment of their costs and benefits. The NICE has recently published guidance recommending vamorolone as an option for treating DMD in people aged four years old and older, and the NHS in England is legally required to fund treatment for eligible patients in line with the NICE’s recommendations. The NICE is currently appraising givinostat, which received a conditional marketing authorisation from the MHRA in December 2024 for treating DMD in patients aged six years old and over, to see if it can be recommended for routine funding on the NHS.

To enhance specialist care, NHS England is supporting multi-system disorder clinics to reduce appointments and ease care coordination for families. Research is underway to improve service integration, and five new Rare Disease Collaborative Networks have been launched to strengthen specialist support across the NHS.