Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps he is taking to improve access to specialist care, treatment and medication for a) children and b) people with phenylketonuria.

The Government is committed to improving the lives of those living with rare diseases, such as phenylketonuria, through the UK Rare Diseases Framework. A priority of the framework is improved access to specialist care, treatment, and drugs. In February last year the England 2025 Rare Diseases Action Plan was published, including progress made under this priority, namely:

• meeting to discuss the effectiveness of early access pathways for rare disease therapies;
• launching a review of the National Institute for Health and Care Excellence highly specialised technology programme for evaluating rare disease treatments;
• introducing two new actions on reforming clinical trial regulations; and
• developing an operational framework for individualised therapies in the National Health Service.

Information about symptoms, medicines, tests and treatments, is provided on the NHS England webpage on phenylketonuria, at the following link:

https://www.gov.uk/government/publications/pku-suspected-description-in-brief/phenylketonuria-pku-detailed-information

The treatment sapropterin is eligible for people with phenylketonuria. Clinical trials suggest that approximately four in 10 people may benefit from sapropterin, improving their quality of life significantly and reducing restrictions on the food they can eat.