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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NICE Announces Guidance on Nusinersen will be Published on 26th June

15 May 2019 / Posted in: Treatments & Research

NICE have now updated their website with this advice. This means that until 26th June, Biogen will fund currently untreated infants with SMA Type 1 via a “bridging solution”. All patients already on the EAP will continue to have access to treatment. Those with SMA Types 2 and 3 will then start to get access subject to the terms of the MAA and as soon as services are able to cope with the patient load.

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NHS England Announces Access to Nusinersen for all with SMA Types 1, 2, 3a and 3b

15 May 2019 / Posted in: Treatments & Research

The treatment will be made available by Biogen immediately to the youngest and most severely-affected infants (SMA Type 1). The NHS will then begin to provide nusinersen to those with SMA Types 2 and 3 shortly after NICE’s full guidance is published, and once the services to deliver them are established. It will also be available to pre-symptomatic siblings who, based on their genetics, are very likely to develop SMA.

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Mental Health Awareness Week 2019

14 May 2019 / Posted in: Information, Support

This week is Mental Health Awareness Week. Read Rare Disease UK's report from 2018 about mental health and the impact of living with a rare disease, and find out more about how we may be able to help with emotional support.

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Potential Biomarker for SMA Identified

10 May 2019 / Posted in: Treatments & Research

Biogen presented data at the American Academy of Neurology 2019 conference on a potential biomarker for SMA.

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Pre-symptomatic Infants Treated with Spinraza™ Achieve Motor Milestones More Consistent With Normal Development

10 May 2019 / Posted in: Treatments & Research

Data from the NURTURE study showed that pre-symptomatic treatment of infants very likely to develop SMA Type 1 or 2 due to their inherited genes resulted in motor milestone achievements more consistent with normal motor development.

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AveXis Presents Positive Interim Results on Zolgensma Across a Broad Spectrum of Patients with SMA

07 May 2019 / Posted in: Treatments & Research

AveXis presented positive results from clinical trials on Zolgensma, across a broad spectrum of patients with SMA at the 2019 American Academy of Neurology conference in Philadelphia.

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Data Published in Neurology Suggest Long-Term Benefits of Spinraza™ Treatment in Later-Onset SMA

07 May 2019 / Posted in: Treatments & Research

Biogen has announced that data from a study on the safety and tolerability of Spinraza™ in individuals with later-onset SMA had been published in the peer-reviewed journal, Neurology.

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