MDUK's Response to the UK Rare Disease Framework Questionnaire

The questionnaire sets out 23 actions that have been developed for the implementation of the UK Rare Disease Framework in England, ahead of the publication of the England Action Plan, due to coincide with Rare Disease Day in February 2022. These actions are put forward to address the four priorities set out in the Framework to improve the lives of people with a rare disease, including people with a muscle-wasting condition:

1. helping patients get a final diagnosis faster
2. increasing awareness of rare diseases among healthcare professionals
3. better coordination of care
4. improving access to specialist care, treatments and drugs

Overall, MDUK is pleased with the list of actions put forward in the questionnaire. We believe they will go a long way towards improving access to specialist neuromuscular services. In our response, MDUK particularly:

• welcomes the development of virtual appointment toolkit to improve coordinated care. But face-to-face specialist appointments are still vital, and more needs to be done to coordinate these appointments.
• is pleased to see a focus on genomic sequencing to improve diagnosis. However, because the implementation of genomics in standard healthcare services is still a few years away, we're pushing for more short-term actions to improve the diagnostic journey. Also, as not all rare diseases are genetic, more needs to be done to improve diagnoses for non-genetic conditions.
• is encouraged to see a broad list of actions to improve access to treatments, including
  • identifying the common barriers to accessing rare disease treatments
  • the role of NICE's methods review to increase flexibility around uncertainty (a common barrier in NICE appraisals)
  • widening the use of fast-tracked approval schemes, such as the launch of the Innovative Medicines Fund
• is also pleased to the focus on not only the approval of rare disease treatments, but also on improving the roll out and uptake for those who are eligible. 
• welcomes the increased focus on improving data collection and support to develop more rare disease registries.

We will continue adding our thoughts into the England action plan, through our work with other rare disease charities, the UK Rare Disease Framework Forum, and the Genetic Alliance Patient Empowerment Group, to improve neuromuscular care across England. 

Scotland, Northern Ireland and Wales are currently working on their own action plans, which are expected in April 2022. MDUK is working with Genetic Alliance and other rare disease stakeholders forums in each nation to put forward recommendations to improve care. 

We're committed to campaigning for improvements to  the access and delivery of specialist neuromuscular services for people with muscle-wasting conditions, and we'll update you on any further developments on the upcoming action plans. If you'd like to find out more about this and other campaigns, please do get in touch with us at campaigns@musculardystrophyuk.org.