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New Report from the Rare Diseases Coalition on Implementing the UK Rare Disease Framework

29 September 2021

Today (29 September), the Rare Diseases Coalition published their new report setting out key recommendations for the governments of all four nations to adopt within their upcoming Rare Disease Action Plans.

Led by Public Policy Projects and Genetic Alliance UK, the Rare Disease Coalition held four roundtable discussion – each around the four priorities outlined in the framework:

  • helping patients get a final diagnosis faster
  • increasing awareness among health professionals
  • coordinating care better, and 
  • improving access to specialist care, treatment, and drugs.

MDUK participated in these discussion alongside clinical experts, professional bodies, other patient groups, and industry across the UK. We were pleased to see clear alignment with other participants on how to improve care for people with a rare disease, including people with a muscle-wasting condition, and we welcome the recommendations laid out in this new report. 

We were particularly encouraged to see alignment with several recommendations we made in our report, ‘Shining a Light: the impact of COVID-19 and the future of care for people with a muscle-wasting condition‘. Such as:

  • to review the eligibility criteria for UK new-born screening to ensure more rare diseases are added to the programme as new treatments become available. This could help to ensure that some neuromuscular conditions, such as spinal muscular atrophy (SMA), are added tot he new-born screening programme to help fast-track access to treatments.
  • consistent commissioning process in every part of the country to tackle the postcode lottery of services. Given neuromuscular services across the UK aren’t consistently funding through the same pathway, establishing a banded national payment system will ensure each neuromuscular services is sufficiently funded to deliver high-quality care.
  • improved care co-ordination between primary, secondary, tertiary and social services.
  • continued use of virtual technology to ensure patients have quick and easy access to specialist advice.
  • access to specialists mental health support to become standard for every patient with a rare disease, including people with a muscle-wasting condition. 
  • improved access to treatments through schemes such as Managed Access Agreements and the Innovative Medicines Fund

Following the publication of this report, we hope these crucial recommendations to improve care for the rare disease community, including people with a muscle-wasting condition, are reflected in each nation’s action plans. We will continue to engage with the Department of Health and Social Care, NHS England and the devolved nation leads to ensure the voices of people with a muscle-wasting condition are heard. 

Rob Burley, MDUK Director of Campaigns, Care and Support, said:

“We welcome the Rare Diseases Coalition’s publication of Implementing the UK Rare Diseases Framework and were delighted to have had the opportunity to play a part in forming the report’s recommendations. The recommendations put forward closely match our ongoing work to improve access to specialist neuromuscular care and faster access to treatments.

While there has been progress in specialist care provision and approval for ground-breaking new treatments in recent years, we know that there are still many improvements required. We hope these recommendations and the ones set out in our Shining a Light report, are reflected in the upcoming Rare Disease Framework Action Plans. And, alongside people living with a muscle-wasting conditions, we hope to continue playing our part in securing them.”

Please see the full report here

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