Rare diseases action plan: progress report

6. Improving access to specialist care and treatment

Ensuring patients have access to the best possible high quality specialist care when they require it remains a key commitment for the Scottish Government.

Action 15: Recognising the role of specialist services

NHS National Services Scotland will continue to support the development of services for rare conditions where possible and engage with the clinical and patient community to ensure they are fully involved in service planning.

The Scottish Strategic Network for Genomic Medicine (SSNGM) established a horizon scanning process linked to the Scottish Medicines Consortium (SMC) in 2023 and launched a Scottish Genomics Test Advisory Group (SG-TAG) for Rare and Inherited Conditions in January 2024 to review and plan for the addition of new tests to the Scottish Genomic Test Directory. This ensures that there is a process to review the availability of genomic testing which could provide those living with a rare condition access to new and innovative treatments.

A review has been undertaken on all national and regional networks and how they currently operate to support understanding of existing processes and inform NHS Scotland’s future planning and direction. Work is continuing to ensure networks have a key role in a new single planning framework, including those who are dedicated to the care of people with specific, specialist and rare conditions.

Action 16: Ultra Orphan Pathway

The Ultra-Orphan Pathway was launched in 2018 to accelerate access to new medicines for very rare conditions. The current definition of an 'ultra-orphan medicine' applies to a medicine to treat a very rare condition affecting fewer than 1 in 50,000 people - around 100 people or less in Scotland.

The Ultra-Orphan Pathway enables medicines for very rare conditions to be made available in the NHS in Scotland for up to three years, while further data collection on the medicine’s efficacy is collected. On completion of a three-year data collection period, pharmaceutical companies submit the medicine to the Scottish Medicines Consortium (SMC) for re-assessment. The outcome of this re-assessment process will determine whether the SMC accepts the medicine for routine use in NHS Scotland.

Since 2018, 11 medicines have been made available for prescribing to patients via the Ultra-Orphan Pathway.

The first medicine, burosumab (Crysvita^®) for the treatment of X-linked hypophosphataemia in children and adolescents aged 1 to 17 years with radiographic evidence of bone disease, has completed the three-year data collection period in the Pathway. A submission for reassessment was considered by the SMC in December 2023, and this medicine has now been accepted for use in NHS Scotland.

Action 17: Digital Front Door

We have worked closely in discussion with colleagues developing this programme to ensure that its opportunities are available to people living with rare conditions as the Digital Front Door programme develops.

The Digital Front Door programme is still in the early stages of development. Whilst this development process continues, and new technologies and opportunities continue to broaden the field of remote consulting and wider digital medicine, we will continue to engage with those living with rare conditions to make sure we are listening to their preferences. We know that some people prefer face to face appointments, but that others could benefit greatly from saved time on travel to different specialists, and that having healthcare notes and prescriptions all in one place would also be beneficial to many.

We will keep this action in our plans to ensure that people living with a rare condition in Scotland are taken into account as digital healthcare continues to advance.

Action 18: Clinical research for rare conditions

To ensure we keep the important underpinning theme of research at the centre of our work, and to inform future iterations of our Action Plan, the RDIB convened two short life working groups (SLWGs) on research into rare conditions. The purpose of these groups was to consider opportunities to strengthen research on rare conditions in Scotland.

The working group on registries and data to support research on rare conditions in Scotland finalised its report in September 2023. The aims of the SLWG on registries and data for research on rare conditions were:

• To briefly summarise the current framework within which administrative patient data can be used for research in Scotland.
• To consider opportunities and barriers to using administrative patient data for research in Scotland, with a specific focus on rare conditions.
• To make recommendations to the RDIB that would facilitate the safe use of administrative patient data for research on rare conditions and hence ultimately contribute to improving outcomes for individuals with rare conditions.

The SLWG made 10 recommendations, including:

• Considering how to improve the granularity of clinical coding within local and national health records to facilitate identification of patients with rare conditions.
• The Scottish Government working with Public Health Scotland to agree a long-term funding package to support the incremental expansion of CARDRISS.
• Improve the understanding among clinicians and clinical academics in Scotland of existing processes for finding, securing approval to use, and accessing administrative patient data for research.
• CARDRISS should explore opportunities for collaboration that would add value to core work and for ongoing, meaningful public and patient engagement.

A separate SLWG presented findings which focused on a Once for Scotland approach to clinical research on rare conditions. This group discussed opportunities to improve networking of research into rare conditions across Scotland in order to increase access of patients across Scotland to studies.

A number of recommendations were made to RDIB, including:

• Development of methods for the identification of clinical studies.
• Adoption of ‘Hub and Spoke’ models for research into rare conditions.
• Adoption of a ‘usual care’ pathway approach for rare conditions: decentralising research follow-up and clinical review to where the patient’s usual care would occur.
• Contribution to the common standards and greater interoperability across different parts of NHS Scotland for data technology from the research community.

The RDIB are considering the findings and recommendations. As the recommendations fall to different areas of the Scottish Government and across the NHS, careful thought is being given to how they can be taken forward, and how progress could be monitored and reported on.