Latest News: Treatments & Research

Patient Advocacy Groups and Clinicians write to NICE & NHSE about the nusinersen MAA and the impact this has had on the SMA Community

14 June 2019 / Posted in: Treatments & Research

Today we have co-signed two letters to address the concerns that are being widely expressed about the nusinersen Managed Access Agreement (MAA).

Read full story

Scholar Rock Announces Positive Final Results from Phase 1 Clinical Trial of SRK-015 in Healthy Volunteers

11 June 2019 / Posted in: Treatments & Research

Scholar Rock announced that SRK-015 was well-tolerated in healthy volunteers across all tested doses and shows robust and durable target engagement, supporting evaluation in the Phase 2 trial in SMA, which is currently ongoing.

Read full story

NICE Announces Appraisal of the Treatment Zolgensma for Infants with SMA Type 1

10 June 2019 / Posted in: Treatments & Research

Following an application by AveXis, NICE is progressing an appraisal of this treatment to see if it will recommend it for provision by NHS England for the treatment of infants with SMA Type 1. We will be asking the Community for their views and making a submission by the deadline of 31st July.

Read full story

Access to Nusinersen in England Update

10 June 2019 / Posted in: Treatments & Research

We were extremely concerned to read some of the eligibility criteria in the draft MAA. We raised these concerns immediately with NICE, NHS England and Biogen. We continue to work with MDUK, Treat SMA and clinicians to establish the next most constructive steps at what is a most delicate stage in this long, difficult and distressing process. This needs very careful thought. We will communicate further on this as soon as possible this week.

Read full story

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.

Read full story

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.

Read full story

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.

Read full story

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.

Read full story

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.

Read full story

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.

Read full story