NEWS & UPDATE
JAN 2023 - Zolgensma Treatment Updates from Health Professionals
SMA UK has published the latest webinar from Health Professionals, Elizabeth Wraige, Jennie Sheehan and Laurent Servais, discussing the UK Zolgensma programme and more. To listen follow the link below.
JAN 2023 - New Research Article Publication
The following article has been recently published on he SMA Revised Hammersmith Scale.
"Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement'
Citation: Ramsey D, Ramdharry G, Scoto M, Muntoni F, Wallace A, on behalf of the SMA REACH UK network (2022) Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PLoS ONE 17(12): e0278996.
Please follow the link below to access this article.
JAN 2023 - New Research Findings - The Amino Acid Diet
The SMA UK advocacy group have recorded a webinar last week with Graeme O’Connor (Research Lead for Dietetics at Great Ormond St Hospital) talks us through the results of a recent pilot project on ‘the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I’. and have released it to the SMA community.
It is now published on our YouTube channel and also on our website on the following 2 pages:
NOV 2022 - STANDARD OF CARE STATEMENT FOR PHYSIOTHERAPY
The SMAREACH physiotherapy group, Adult SMA and SMAUK have collaborated to produce a standard of care statement for physiotherapy management in SMA patient population. Please see below to read the full statement.
AUG 2022 - REVISED SHEETS FOR LOOKING AFTER CHILDREN WITH RECENT SMA DIAGNOSIS
SMA UK have now completed their review (in line with our PIF tick – and the revised sheets are now updated and available on our website.
Across all the sheets, the changes have been quite extensive, so SMA UK would ask that if you / your team do happen to have any old versions / printed copies, could you please recycle those.
At the moment these revised sheets are available in webpage form only. They can be downloaded and printed - or printed copies requested from SMA UK. They realise these are not as user friendly as the old printed booklet versions and they will be working on updating the printed versions as soon as time and resources allow.
With grateful thanks to all reviewers for sharing their expert advice and guidance. Any other thoughts / feedback – from families and professionals - are always welcome and greatly appreciated – please do let SMA UK know: Email information@smauk.org.uk
Thank you so much again on behalf of all at SMA UK, and very best wishes,
Jackie and Liz
MAY 2022 - PUBLICATION OF DRUG TREATMENT DOCUMENTS FOR SMA
It was highlighted that standardized documents for drug treatment for SMA in UK which could be shared at different centres would be useful. The idea is to produce a neutral document to avoid reinventing the wheel. We are happy to say we have published two documents: drug treatments for children who have SMA in England, drug treatments for adults who have SMA in England.
Publication of these have only been possible because of the time and expertise put in by our clinical reviewers – so a huge thank you to all involved.
The sheets have also been ‘fact-checked’ by the pharma companies. Review by members of our Target Audience is ongoing.
If anyone has any thoughts, comments or feedback on the sheets please don’t hesitate to get in touch.
Also, we’re always looking for reviewers for other sheets and web pages. We appreciate how busy everyone is, but if anyone is interested and might have some capacity at any time, then please do get in touch with Liz or Jackie direct or via: information@smauk.org.uk
To access the documents, please see the links below Drug treatments for adults who have SMA in England
MAY 2022 - PUBLICATION OF DRUG TREATMENT DOCUMENTS FOR SMA
It was highlighted that standardized documents for drug treatment for SMA in UK which could be shared at different centres would be useful. The idea is to produce a neutral document to avoid reinventing the wheel. We are happy to say we have published two documents: drug treatments for children who have SMA in England, drug treatments for adults who have SMA in England.
Publication of these have only been possible because of the time and expertise put in by our clinical reviewers – so a huge thank you to all involved.
The sheets have also been ‘fact-checked’ by the pharma companies. Review by members of our Target Audience is ongoing.
If anyone has any thoughts, comments or feedback on the sheets please don’t hesitate to get in touch.
Also, we’re always looking for reviewers for other sheets and web pages. We appreciate how busy everyone is, but if anyone is interested and might have some capacity at any time, then please do get in touch with Liz or Jackie direct or via: information@smauk.org.uk
To access the documents, please see the links below Drug treatments for adults who have SMA in England
WEBINAR UPDATE ON TREATMENTS IN THE UK
A group of leading experts in SMA provide an update on SMA treatment for adults and children in the latest webinar. Many thanks also to the panel members involved in the latest webinar:
Many thanks to the Adults’ team at Sheffield for their audio recording. With thanks again for everyone’s continued support and guidance and very best wishes.
Dec 2021 – Pre-screening for Spinal Muscular Atrophy
The research, led by Professor Francesco Muntoni (interviewed by the BBC) and Dr Mariacristina Scoto at GOSH, indicates that pre-screening for Spinal Muscular Atrophy (SMA) is possible via the standard new born ‘blood-spot’ test – full paper attached. The GOSH BRC research team appeared on BBC Breakfast to share the news. This would allow children likely to be affected by SMA to be identified and offered treatment before symptoms appear, offering them the best chance of meeting developmental milestones.
A family under our care have kindly agreed to tell their story and have also been filmed by the BBC. Their eldest daughter Amelia (now 16) has SMA and sadly lost the ability to walk shortly after she turned 1. With this family history, their second daughter was screened, identified as at risk of SMA, and the family chose to undertake Zolgensma gene therapy for her when she was just 4 weeks old. As a result, they have a 3 yr old who is asymptomatic for SMA, running around and ruling the roost, despite her genetic disposition to SMA.
Full report ‘Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay’
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Latest News and Updates
Zolgensma Treatment Updates from Health Professionals
New SMA REACH article publication on
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement
Webinar with Graeme O’Connor on a recent pilot project on amino acid diet