Latest News: Treatments & Research

Newborn Screening Using Whole Genome Sequencing – Have Your Say by 14th June 2022 Newborn Screening Using Whole Genome Sequencing – Have Your Say by 14th June 2022

06 May 2022 / Posted in: Information, Treatments & Research

We’re expecting the NSC to begin its review of newborn screening this year. In parallel, Genomics England is running this survey to decide what principles should be used in future to choose conditions that will be screened for. This survey provides another route for the SMA Community to raise the importance of newborn screening for SMA.

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New Three-Year Data for Roche’s Evrysdi™ Show Long-Term Improvements in Survival and Motor Milestones in Infants who have SMA Type 1 New Three-Year Data for Roche’s Evrysdi™ Show Long-Term Improvements in Survival and Motor Milestones in Infants who have SMA Type 1

04 May 2022 / Posted in: Treatments & Research

Roche recently presented this data from the FIREFISH study, including one-year data from the open label extension, reinforcing the long-term efficacy and safety of Evrysdi™ (risdiplam) in infants with symptomatic SMA Type 1.

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SMA UK and MDUK to Fund a Four Year PhD Studentship in SMA Research SMA UK and MDUK to Fund a Four Year PhD Studentship in SMA Research

01 April 2022 / Posted in: Treatments & Research

We're delighted to be continuing our partnership with MDUK to fund jointly this research which has been awarded to Dr Lyndsay Murray of the University of Edinburgh.

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Biogen develops BIIB115, a potential new treatment for SMA Biogen develops BIIB115, a potential new treatment for SMA

18 March 2022 / Posted in: Treatments & Research

Biogen has shared a community update to announce that they are moving ahead with an early-stage investigation into this new treatment for SMA that could potentially treat further unmet needs.

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New Data for Roche’s Evrysdi (risdiplam) Demonstrate Long-Term Efficacy & Safety in a Broad Population of People who have SMA New Data for Roche’s Evrysdi (risdiplam) Demonstrate Long-Term Efficacy & Safety in a Broad Population of People who have SMA

17 March 2022 / Posted in: Treatments & Research

The latest risdiplam (Evrysdi) data updates were presented virtually at the 2022 MDA Clinical and Scientific Conference on 13th - 16th March.

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Roche Community Update re Ukraine Roche Community Update re Ukraine

15 March 2022 / Posted in: Treatments & Research

Roche has provided a community update, which we've received via SMA Europe, about the work they’ve been doing to understand better the situation in Ukraine and the impact on the SMA Community.

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First UK Pilot Study of Newborn Screening for SMA Launched in Oxford First UK Pilot Study of Newborn Screening for SMA Launched in Oxford

11 March 2022 / Posted in: Treatments & Research

This population-based newborn screening study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity. Researchers hope this will pave the way for national newborn screening that will lead to healthier lives for about 70 babies a year in the UK.

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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.

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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.

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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.

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