UK Rare Diseases Action Plan Published on Rare Disease Day 2022 UK Rare Diseases Action Plan Published on Rare Disease Day 2022

02 March 2022 / Posted in: Information, Treatments & Research, Support

One year after the Rare Diseases Framework was released, we now have an action plan which sets out measurable actions for the next year.

Read full story

SMA Family Featuring in Genetic Alliance UK’s and ITN Production’s New Film Project SMA Family Featuring in Genetic Alliance UK’s and ITN Production’s New Film Project

28 February 2022 / Posted in: Information, Treatments & Research, Support

This Rare Disease Day, Genetic Alliance UK have partnered with ITN Productions Industry News to produce 'Shining a Light on Rare Conditions', a news-style programme raising awareness of people affected by rare, genetic and undiagnosed conditions. There are over 6,000 known rare conditions, including SMA.

Read full story

SMA UK Responds to the Innovative Medicines Fund consultation SMA UK Responds to the Innovative Medicines Fund consultation

24 February 2022 / Posted in: Treatments & Research

Treatments for rare diseases like SMA are often very expensive and benefit a small proportion of the UK population. In our response to the proposals for this new funding pathway, we seek assurance that the rare disease community won’t miss out on treatments due to cost effectiveness for the taxpayer.

Read full story

SMA UK Responds to the ICS and Specialised Commissioning Proposals SMA UK Responds to the ICS and Specialised Commissioning Proposals

24 February 2022 / Posted in: Information, Support

NHS England are proposing huge changes to Health and Care systems throughout the UK. Integrated Care Systems promise a new way of working collaboratively. Professionals will be working together with pooled budgets to create individualised care pathways. If led and coordinated well this could have a positive impact on the quality of care of those living with SMA.

Read full story

NICE Methods and Processes Review – Results NICE Methods and Processes Review – Results

23 February 2022 / Posted in: Treatments & Research

New guidance has now been finalised following a 2-year consultation during which we joined others and gave our feedback on proposals. There are some positive changes, but not far enough to meet the needs of the rare disease community.

Read full story

Living With SMA Podcast - Episode #14 Living With SMA Podcast - Episode #14

22 February 2022 / Posted in: Information, Support

Meet Steve, Eden and Josh who all have SMA Type 3. There’s loads discussed in today’s episode, including independent living, work, applying for jobs, treatment, and getting into Bristol nightclubs!

Read full story

Rare Disease Day – 28th February 2022 Rare Disease Day – 28th February 2022

15 February 2022 / Posted in: Information, Support

This annual event raises awareness of rare diseases, and works towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Find out how you can get involved in the lead up to, and on, the day.

Read full story

Westminster Virtual Rare Disease Day 2022 reception – 23rd February Westminster Virtual Rare Disease Day 2022 reception – 23rd February

15 February 2022 / Posted in: Information, Support

This virtual event will feature hearing from people affected by rare conditions, presentations from health ministers, and opportunities to network with others in the community.

Read full story

NICE Publishes Variation to England’s Managed Access Agreement for Nusinersen NICE Publishes Variation to England’s Managed Access Agreement for Nusinersen

07 February 2022 / Posted in: Treatments & Research

This brings the eligibility, monitoring and stopping criteria for nusinersen in line with the new risdiplam MAA as far as possible given their different methods of administration (oral versus intrathecal injection).

Read full story

Scottish NHS to Fund Risdiplam Treatment Scottish NHS to Fund Risdiplam Treatment

07 February 2022 / Posted in: Treatments & Research

We're delighted to hear today’s news that the Scottish Medicines Consortium has announced its decision to fund risdiplam for use within NHS Scotland. This is for the treatment of 5q SMA in patients 2 months of age and older, with a clinical diagnosis of SMA type 1, type 2 or type 3 or with one to four SMN2 copies.

Read full story