Results of SMA Europe’s 2nd Pan-European Survey on Patient Expectations Published

30 March 2021 / Posted in: Information, Treatments & Research

Completed by 1,474 people from 26 European countries, this study confirms what we have been saying in the UK in particular that stabilisation of someone’s SMA and even minor changes in their ability have meaningful impacts on daily life. It’s now summarised on the SMA Europe website with a link to the full publication.

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Risdiplam Receives EU Marketing Authorisation

30 March 2021 / Posted in: Treatments & Research

Risdiplam has now received marketing authorisation in the European Union (EU) for the treatment of 5q SMA in those aged 2 months and older, with a clinical diagnosis of Type 1, Type 2 or Type 3 or with one to four SMN2 copies - this will apply to Northern Ireland (NI) and impact on the NI EAMS. Risdiplam remains an unlicensed medicine in the rest of the UK, with Roche anticipating marketing authorisation in May 2021.

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Launch of the European Newborn Screening Alliance Whitepaper on the need for NBS Programmes to include SMA

26 March 2021 / Posted in: Information, Treatments & Research

Today, Alliance leaders, MEPs and others, spoke passionately of why action for NBS is needed across Europe now and you can watch a recording of the event. The whitepaper covers the evidence and arguments; this and other information is here. The UK NBS Alliance (of which we are a member) is meeting at the end of this month and we'll update you with its activity as soon as possible.

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Easter Bank Holiday

26 March 2021 / Posted in: Information, Support

Our office will be closed from 3.30pm Thursday 1st April and will re-open from 9am on Tuesday 6th April. Find out more about where to find information and support during this time.

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RCPCH &Us and British Paediatric Surveillance Unit: New Project

24 March 2021 / Posted in: Information, Support

RCPCH &Us and the British Paediatric Surveillance Unit (BPSU) are supporting a project about rare conditions with young people aged 13-25 who live in the UK. This follows their previous survey. Find out how to get involved - taking place Wednesday 31st March.

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Questionnaire for Families of Children with Neuromuscular Conditions about Respiratory Care

24 March 2021 / Posted in: Information, Support

This is being run by Federica Trucco - a consultant in paediatric sleep at Royal Brompton Hospital and Evelina London Children Hospital. She hopes the questionnaire will help clinicians better understand the areas needing improvement and what the main hopes of families are in regards to the results of new treatments.

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Roche Presents New Two-Year Data From SUNFISH (Part 2) Trial

17 March 2021 / Posted in: Treatments & Research

New two-year data show Roche’s Evrysdi (risdiplam) continues to demonstrate improvement or maintenance of motor function in people aged 2-25 years, who have SMA Type 2 or Type 3.

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Rare Disease Survey - RCPCH &Us and BPSU

17 March 2021 / Posted in: Information, Support

The Royal College of Paediatrics and Child Health, together with The British Paediatric Surveillance Unit, are running this survey for young people aged 13-25, who have a rare condition and live in the UK. Your answers will help them, the NHS and other partners, to help make the best services possible for children, young people and young adults who have a rare condition. Survey closes 6th April.

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New Survey: Being a Teenager With SMA

17 March 2021 / Posted in: Information, Support

Are you aged 13-18? Do you have a diagnosis of SMA? Jordanne has SMA Type 2 and is currently studying a master's degree in clinicial psychology. She's interested to hear more about how SMA affects the emotions and quality of life of people aged 13-18 years.

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Update on Access to Zolgensma Treatment in England

16 March 2021 / Posted in: Treatments & Research

Following the announcements on Monday 8 March 2021, we wanted to clarify how the NHS England announcement relates to the NICE draft recommendations, especially how they potentially enable different groups of children to access Zolgensma. We have therefore been in touch with NHS England asking for an update and to clarify as much as is possible at this stage.

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