X-linked Hypophosphataemia

The Department does not hold the data requested. The Government is committed to improving the lives of those living with rare diseases, such as X-linked hypophosphatemia. The UK Rare Diseases Framework sets out four priorities collaboratively developed with the rare disease community; these include better coordination of care and improving access to specialist care, treatments, and drugs. We remain committed to delivering under the Framework and will publish an annual action plan for England in 2025.

Understanding patient data will facilitate access to treatments and care for patients. The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) collects data on people with rare diseases. In the 2023 action plan we committed under action 22 to improving the ‘findability’ of people living with rare diseases using the National Disease Registration Service. NCARDRS collects data from a variety of sources to support rare disease registration, including from eight highly specialised services currently to support rare disease registration. Discussions are underway with other highly specialised services to establish dataflows.