'Give it Back' Campaign launched by DCP

03 June 2019 / Posted in: Information, Support

Today sees the launch of 'Give it Back' - a new campaign from the Disabled Children's Partnership to encourage the government to fill the £434million gap in social care funding for disabled children in England through the upcoming Spending Review.

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NICE Releases Nusinersen Final Appraisal Determination (FAD), Draft MAA, and Committee Papers

03 June 2019 / Posted in: Treatments & Research

The FAD will form the guidance to the NHS and the committee papers summarise the information it considered in the process of getting to this stage. We note that the draft MAA still requires some further clarity and development. Jointly with MDUK and TreatSMA we have already raised concerns around this and NICE and NHS England have committed to respond to these at the earliest possible time.

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SANDS Awareness Month - Finding Your Way

03 June 2019 / Posted in: Information, Support

June is SANDS awareness month. 2019's theme is ‘Finding Your Way’ after pregnancy and baby loss and seeking support in a way that is right for anyone needing it, with a particular focus on support for men and helping them find a way through grief. Find out more here including how to support the campaign.

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New Q&A - Prof. Laurent Servais

31 May 2019 / Posted in: Treatments & Research

For our latest Q & A we have Laurent Servais, a clinical researcher recently appointed Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre.

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Roche presented data from its risdiplam pivotal FIREFISH and SUNFISH studies at the 2019 American Academy of Neurology annual conference

31 May 2019 / Posted in: Treatments & Research

Risdiplam is an orally administered small molecule which encourages the SMN 2 “back-up gene” to produce functional SMN protein.

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Survey Reviewing the Supply and Use of Wheelchairs from the NHS

29 May 2019 / Posted in: Information, Support

This survey is designed to capture information on service user experience in the Greater Manchester area of accessing and using a wheelchair (manual, battery powered or electric) over the last 5 years, and to identify both user and carer priorities. Survey closes: 28th June.

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Childhood Project Survey

29 May 2019 / Posted in: Information, Support

The NCB and British Academy want to find out what children and young people aged 11 to 18 think and feel about Childhood. They want to find out how the decisions that governments make affect children and young people’s lives as they are growing up.

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AveXis Receives USA Approval for their Gene Therapy, Zolgensma®, for the Treatment of Children with SMA Aged Less than 2 Years

28 May 2019 / Posted in: Treatments & Research

This makes a second ground-breaking treatment for SMA possible in the USA for these children and any who are pre-symptomatic. It is a one-time injection into the blood designed to address the genetic root cause of SMA by replacing the faulty or missing SMN1 gene.

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Student Survey: Views about Newborn Screening for Spinal Muscular Atrophy and Spinraza

27 May 2019 / Posted in: Information, Treatments & Research

This research is being conducted by a third year Biomedical Science undergraduate student at the University of Warwick. It's exploring views about newborn screening for SMA and Spinraza being recently approved for use on the NHS in the UK. Survey closes 4th June.

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Novartis announces 25 infants with SMA Type 1 now enrolled into Part 2 of their trial

20 May 2019 / Posted in: Treatments & Research

This means enrolment for this trial has now closed. Branaplam is currently being assessed for safety and efficacy in a Phase 1/2 clinical study in Type 1 infantile-onset SMA. These 25 infants are in addition to the 7 (out of 13 infants) who continue to receive branaplam in Part 1 of the study. Their exposure to treatment ranges from 3 to 4 years.

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