Rare Condition Registration Statistics updated to 2022

The UK Rare Diseases Framework provides the strategic framework through which NDRS’ registration activities can support an improvement in rare disease patient care and outcomes. It outlines the need for a robust rare disease data acquisition and registration process. This framework is underpinned by the Rare Diseases Action Plan, which provides specific actions for NDRS to carry out to support the framework. These include:

• Helping to determine if there is equitable access to drugs for patients with rare diseases by acquiring high-cost medications data.
• Helping to determine if there is equitable access to highly specialised services for patients with rare diseases.
• Collecting genomic data.
• Enabling patient self-registration.
• Standardisation of the minimum core data set and inclusion criteria, coding and routine analysis.
• Gathering feedback from the rare disease community about other priority areas.