Invitation to Join Study: Experiences of Living With, or Caring for Someone who has, SMA

21 May 2020 / Posted in: Information, Support

A healthcare market research company working for a research client and pharmaceutical company wants to understand patient and caregiver journeys and any treatment routines. Participants will be paid £35 for each completed survey, with 10% donated to one of the company's registered charities. Registrations of interest close 29th May.

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AveXis receives European Commission (EC) approval for the gene therapy Zolgensma®

19 May 2020 / Posted in: Treatments & Research

The EC has granted approval for Zolgensma® for the treatment of babies and young children who have 5q SMA with a bi-allelic mutation in the SMN1 gene and either a clinical diagnosis of SMA Type 1 or up to three copies of the SMN2 gene.

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NICE & NHS England Answer Nusinersen FAQs on MAA and Access for Children

19 May 2020 / Posted in: Treatments & Research

We finally have answers to some of the questions the patient groups asked NHS England and NICE in August 2019. Other FAQs posed were about access for adults, data collection and the treatment itself. These should be coming soon.

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Do you live with a neuromuscular condition and experience swallowing difficulties, or care for someone who does?

18 May 2020 / Posted in: Information, Support

If so, please consider sharing your experiences by completing an online survey led by a specialist team at The National Hospital for Neurology and University College London. Survey closes 26th July.

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PhD Scholarship Funding Cancelled This Year

18 May 2020 / Posted in: Treatments & Research

Due to the financial effect COVID-19 is having on Muscular Dystrophy UK’s ability to generate income, they have with great regret had to cancel their 2020 Grant Round. This includes the PhD scholarship scheme we were undertaking jointly with them. Sadly due to the impact on our funding as well, it would be unrealistic for SMA UK to organise our own process.

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International Research Survey: Coronavirus

14 May 2020 / Posted in: Information, Support

A collaboration of international researchers, including researchers from University College London, are interested in how the current coronavirus pandemic is affecting disabled people and their families.

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Scholar Rock Reports Delays in Interim Trial Results Due to COVID-19

13 May 2020 / Posted in: Treatments & Research

Scholar Rock reported on the recent progress and upcoming milestones for the TOPAZ Phase 2 clinical trial of SRK-015 in patients who have SMA Type 2 or 3, in the light of the COVID-19 pandemic.

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Research Survey to Understand the Impact of COVID-19 on People who have a Rare Disease, and their Caregivers

12 May 2020 / Posted in: Information, Support

Researchers at Queen’s University Belfast and University of Aberdeen are conducting this online international survey. It's available to complete until the end of May.

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EURODIS Survey to Understand how the COVID-19 Pandemic is Affecting those who have a Rare Disease, and their Carers

12 May 2020 / Posted in: Information, Support

The goal is to voice the specific needs of rare disease patients’ in relation to the COVID-19 pandemic and to propose practical solutions to ensure rare diseases patients are take into account when handling the pandemic.

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Request for NICE to Reconsider the Decision to Suspend the Appraisal Process for risdiplam

07 May 2020 / Posted in: Treatments & Research

Yesterday we sent a letter to NICE, jointly with MDUK and TreatSMA, stating that for the large proportion of the SMA community there is no treatment, and therefore the appraisal of risdiplam is critical, and must continue to be appraised.

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