Thames Valley Pilot Study extends beyond the Thames Valley and finds a new name, due to enthusiasm for newborn screening for SMA in other places
The Thames Valley Pilot Study for newborn screening for SMA has had to be renamed due to its expanding focus across a wider geographical footprint. It is now known as the “SMA Newborn Screening Study”. Following a call for expressions of interest via the National Institute for Health and Care Research (NIHR), a number of new Trusts came forward to join the study. Four Wessex Trusts are now taking part in the pilot on a self-funded basis due to a strong desire to offer newborn screening for SMA to local babies. Leicestershire is also in the process of joining the pilot which will mean it can offer newborn screening for SMA to 25,000 babies a year via its largest hospital, Leicester Royal Infirmary.
Update on UK SMA Newborn Screening Alliance engagement with UK NSC
You may have seen in our social media feed that the UK NSC recently published a blog on work that is underway to assess SMA for newborn screening. The UK SMA Newborn Screening Alliance is delighted that work is progressing and we wanted to provide an update on how we have been involved so far. We are also looking forward to hearing more about the Oversight Group that is going to be established to agree plans for the in service evaluation of newborn screening for SMA.
SMA Included in the First List of Conditions in Genomics England’s Generation Study
The UK SMA Newborn Screening Alliance was delighted to see SMA included in the initial list of over 200 rare conditions that will be included in Genomics England’s Generation Study.
The study, which aims to start in NHS hospitals in late 2023, aims to understand whether sequencing babies’ genes can help to discover rare genetic conditions earlier.
Sweden Introduces Newborn Screening for SMA
The National Board of Health and Welfare in Sweden has introduced national screening for spinal muscular atrophy (SMA) in newborns. Alongside the announcement, the following documents were published: a report with recommendations on how the screening should be organised, indicators to follow up on the implementation of the programme, and updated regulations.
NHS press release highlights impact of treatment options on SMA prognosis, but newborn screening is essential to deliver true transformation for babies with SMA
On 7 August, NHS England issued a news release highlighting that 3 in 4 babies born with SMA are now surviving for 2 years or more, thanks to the increased availability of treatments through the NHS since 2019.
Update on progress in the UK NSC assessment of newborn screening for spinal muscular atrophy
The UK NSC has published a blog today that summarises progress on the assessment of newborn screening for SMA. We are pleased to see this blog, which the UK NSC has said will be the first of a series of blogs designed to keep the SMA community, and others with an interest in newborn screening, up to speed on developments in the assessment.
New Academic Article Reviews Treatment Results in Patients who were Diagnosed with SMA Through Newborn Screening
A new academic article, co-authored by Alliance Chair Laurent Servais, has been published. Laurent and his colleagues undertook a systematic review of treatment results in patients who were diagnosed with SMA through newborn screening.
Why We Are Launching a Monthly Barometer – to Demonstrate the Human Cost of Delaying Newborn Screening
The UK SMA Newborn Screening Alliance is focused on ensuring that a positive decision is made about newborn screening for SMA in the shortest possible timeframe.
While we know and appreciate that people are working as hard as they can to streamline the process for SMA, for every five days that a decision is delayed, a baby born with SMA could be denied the chance of a healthier future. That is why we are launching a barometer to show how many babies have been born in the UK with SMA since nusinersen, the first treatment for SMA in the UK, was approved, first by the Scottish Medicines Consortium and then across the rest of the UK.
We hope that this barometer will serve as a reminder to us all as to why we must continue to work together as efficiently and effectively as we possibly can.
APPG for Muscular Dystrophy Publishes Report on Newborn Screening for Rare Diseases
The All-Party Parliamentary Group (APPG) for Muscular Dystrophy has published a report on newborn screening for rare conditions. The report reflects on the UK National Screening Committee’s (UK NSC’s) desire to “deliver the ambition set out in the Rare Diseases Action Plan for England 2023 of ‘improving how decisions are made on newborn screening for rare conditions’” and explores how this might be achieved.
UK SMA Newborn Screening Alliance Has Been Active For One Year!
Although the UK SMA Newborn Screening Alliance originally convened prior to the pandemic, disruption due to Covid meant that the Steering Group only came together more formally in April 2022. Since then, a whole year has passed and the UK National Screening Committee review of SMA has begun. We have been working hard to inform and support this review, as well as encouraging an ambitious, rapid approach to the assessment of newborn screening for SMA. We know that it is essential that the UK NSC makes a robust decision and we strongly believe that there is a compelling, evidence-based case for newborn screening for SMA in the UK, now. We hope to be able to report a positive decision from UK NSC well before we reach our second anniversary!
New Paper Summarises Clear, Well-Defined Treatment Pathway for Babies Diagnosed with SMA via Newborn Screening
A new paper, developed in partnership with leading clinicians, summarises the clear, well-defined treatment pathways for babies diagnosed with SMA via newborn screening.
Read the summary by clicking on the link below.
Detailed Academic Paper on Cost-Effectiveness of Newborn Screening for SMA in England is Now Available
As part of its decision-making process, the UK National Screening Committee (UK NSC) considers economic modelling to be important for rare diseases, given the limitations on available evidence.
The UK SMA Newborn Screening Alliance is delighted that the UK NSC is open to considering existing economic models on the cost effectiveness of newborn screening for SMA.
SMA Alliance Chair, Laurent Servais, has worked with others on a model that evaluates the cost effectiveness of newborn screening for SMA in England and Wales, versus not introducing newborn screening for SMA.
UK SMA NBS Alliance Supports Research Review that will Inform the UK NSC Assessment of SMA for the UK Newborn Screening Programme
An evidence review process is applied to all decisions that the UK NSC (National Screening Committee) makes regarding whether to introduce, change or stop any screening programme.
As part of this approach, and to ensure that decisions are based on a robust evidence base, the UK NSC can commission a range of evidence products from external review teams, which are conducted independently from the UK NSC.
For its review of SMA, the UK NSC has commissioned the University of Sheffield School of Health and Related Research (ScHARR) to conduct a literature review of relevant research.
Debate on Patients with Rare Diseases Covers Newborn Screening for SMA
On Thursday 9th March 2023, a Westminster Hall debate was held in the House of Commons to consider “Patients with Rare Diseases”. The Alliance was delighted to see several MPs raise issues related to newborn screening, and specifically newborn screening for Spinal Muscular Atrophy (SMA).
NICE Approves Zolgensma Gene Therapy for Pre-Symptomatic Treatment of SMA
The UK SMA Newborn Screening Alliance is delighted that Zolgensma™ (Onasemnogene abeparvovec) is now recommended as an option for treating pre-symptomatic SMA in babies aged 12 months and under, who have up to 3 copies of the SMN2 gene. Previously, babies diagnosed symptomatically could only access Zolgensma through a managed access agreement (MAA).
This recommendation is an important development in relation to newborn screening for SMA.
Study of the Acceptability of Newborn Screening for SMA to Inform Screening Policy Makers in UK
Researchers at the University of Warwick, Prof Felicity Boardman and Dr Corinna Clark, are conducting a study to explore the acceptability of newborn screening for SMA. The researchers are using surveys and interviews to gather views from different groups of stakeholders.
Newborn Screening – Community Update
In March 2023, SMA UK recorded a webinar to bring the wider community up to speed on developments in relation to newborn screening for SMA (please note: Unfortunately, the Parliamentary Drop-in event that is mentioned in this webinar had to be cancelled due to unforeseen circumstances).
New Study Shows how Newborn Screening for SMA Leads to More Children Walking Two Years Post Diagnosis
A new study published in The Lancet Child & Adolescent Health journal suggests that newborn screening for spinal muscular atrophy (SMA), when combined with early treatment, results in better movement ability in affected children, including the ability to walk. This is based on a comparison between children diagnosed pre-symptomatically via newborn screening and children diagnosed reactively, once symptoms had developed. The evidence draws on real world data from the Australian pilot for SMA newborn screening and clearly demonstrates the clinical effectiveness of newborn screening, underscoring the need for SMA to be added to the newborn screening programme in the UK.
Temporary Change to Zolgensma Treatment Eligibility Emphasises Need for Newborn Screening for SMA
SMA UK, Muscular Dystrophy UK and TreatSMA recently issued an update related to a decision by NHS England to temporarily change eligibility for NHS-funded treatment Zolgensma in England, pausing treatment in children over 12 months old due to a small number of adverse events in this cohort of patients. Recently, a small number of children treated in England, particularly those who are older and weighing more than 13.5 kg, have been noted to have suspected significant adverse drug reactions affecting the liver following the administration of Zolgensma®.
This development underscores the need for newborn screening for SMA to maximise the chance that babies with the condition get access to treatment at the time when it can deliver maximum benefit (ideally prior to symptom onset when irreversible neuron damage will have occurred) and with the minimum risk of harm (for example, via adverse reactions which may become more likely with increased age/weight at the time of treatment).
The Alliance is certain that this will be taken into consideration by UK NSC as they progress their assessment of SMA for newborn screening. We also hope that it adds increased impetus to the need for a rapid decision on newborn screening for SMA.
UK NSC Review of SMA Has Commenced!
The Alliance is delighted that the UK National Screening Committee (UK NSC) review of spinal muscular atrophy (SMA) for the UK newborn screening programme has commenced.
New model on the cost effectiveness of newborn screening for SMA in England
A new model has been developed to explore the cost effectiveness of screening for spinal muscular atrophy (SMA) in England. It has found that newborn screening can give babies with SMA a healthier future by enabling treatment before symptom onset in the vast majority of cases. This approach will generate savings of over £67million across the lifetime of all of the babies identified in one year.
The findings generated by the model were presented this week at ISPOR, the leading European conference for health economics and outcomes research.
The UK SMA Newborn Screening Alliance welcomes the development of this model and hopes that the UK National Screening Committee will ensure that it is reviewed and incorporated into the official newborn screening assessment process for SMA. This new evidence should help to ensure that a robust but rapid decision can be made about adding SMA to the national newborn screening programme in the UK.
NHS genomics developments give hope to critically ill newborn babies and children but do not address urgent need for newborn screening for SMA
Yesterday, NHS England published its 5-year genomics strategy, Accelerating Genomics Medicine in the NHS. In conjunction with the release of the report, at the first ever NHS Genomics Conference, Amanda Pritchard (NHS England Chief Executive), announced a genetic testing service for severely ill babies and children.
This is a welcome development and represents an advance in genomics medicine that will help many children and babies who end up in intensive care. However, for children with SMA such a test would be too late as diagnosis and treatment prior to symptom onset (at which point irreparable damage has been done) is essential. Newborn screening is the fastest route to diagnosis for babies with SMA and is not currently available in the UK – The UK SMA Newborn Screening Alliance is calling on the UK NSC to expedite its review of newborn screening for SMA.
The APPG on Muscular Dystrophy Inquiry on newborn screening for rare conditions has opened!
The APPG on Muscular Dystrophy has launched an inquiry to gain a better understanding of the value of newborn screening to individuals with rare conditions and what an appropriate level of evidence should be to support the appropriate expansion of the programme. Although the inquiry will take an interest in rare conditions in general, there will be a specific focus on SMA. This is a brilliant opportunity to provide your insight so please do submit a response. The inquiry is open until 16th November and further information can be found through the link below.
Further expansions of SMA newborn screening programme across Europe
SMA newborn screening has now been added to the screening programme in Galicia, Spain with screening expected to start by the end of 2022. Three other regions (Valencia & Sevilla, Malaga, and Madrid) are also currently undertaking pilots for SMA newborn screening. Meanwhile, the Southern Denmark health region, which is one of five regions, decided to start screening for SMA for all the babies born in the region, with screening expected to start autumn 2022. This means there are now 39 countries across Europe that have either rolled newborn screening for SMA out nationally or are undergoing pilots to inform decision making about national programmes.
UK SMA Newborn Screening Alliance – Official Launch
We’re pleased to announce the launch of our new website, and social media channels, for the UK SMA Newborn Screening Alliance. The Alliance is focused on securing the introduction of newborn screening for SMA in the UK at the earliest possible opportunity – so that we can #ScreenTodayForSMA
Meeting the challenges of rare disease in NHS newborn blood spot screening
The Alliance welcomes the establishment of the UK National Screening Committee’s (UK NSC) new Blood Spot Task Group (BSTG). There are many rare diseases that haven’t been yet been incorporated onto the newborn screening programme, such as SMA. The aim of this group is to bring together rare disease experts to deepen the UK NSC’s understanding of what constitutes sufficient evidence to incorporate a disease onto the screening programme. We look forward to contributing to the debate about what is an appropriate level of evidence for screening in rare conditions, such as SMA, where the case is compelling and has been accepted across multiple countries across Europe and the world.
Understanding the financial costs of spinal muscular atrophy
Our Chair, Laurent Servais, has released a video (click below) that explains the impact that treatment for SMA can have on financial costs and health for children with SMA. In particular, the video shows the difference between patients who haven’t been treated, patients who have been treated after symptom onset, and patients who have been treated pre-symptomatically. Identifying patients through newborn screening and treating them pre-symptomatically is far more cost effective than waiting until symptom onset. In fact, for every second the UK doesn’t screen for SMA, we pay €4! Newborn screening can deliver a massive saving on medical and societal costs, as well as giving children with SMA a healthier outlook. The research paper that the video is based on can be found here.
Steering Group Meeting Update
The UK SMA Newborn Screening Alliance Steering Group, chaired by Professor Laurent Servias (Professor of Paediatric Neuromuscular Diseases, University of Oxford), met in June to consider progress to date and to agree next steps for the campaign to #ScreenTodayForSMA
UK National Screening Committee’s remit expanded to include targeted and stratified screening
The new chair of the UK National Screening Committee (UK NSC), Professor Sir Mike Richards, announced today the expansion of the NSC’s remit to include those in high-risk groups (known as ‘targeted’ screening) and more tailored screening to individual risk (known as ‘stratified’ screening). This is a great step forward within SMA NBS screening in the UK and will hopefully lead the way to population screening.
SMA Newborn screening incorporated in the Heel Prick Test in the Netherlands
The Minister for Population Health, Wellbeing and Sports announced today that SMA will be included in the newborn heel prick test starting 1st June. Acknowledging the importance of pre-symptomatic treatment, the announcement also highlighted the need for newborn screening to provide babies with the best chance of normal development.
Thames Valley pilot study to check for rare condition
First UK pilot study of newborn screening for SMA was launched in Oxford. The aim of the study is to improve the health of newborn babies affected by SMA. Pregnant women in the Thames Valley can take part in the screening trial to detect SMA,
The pilot study will be run at the MDUK Oxford Neuromuscular Centre and is being led by Professor Laurent Servais.
Latest data from Novartis SPRINT trial of Zolgensma confirms the benefits of pre-symptomatic treatment
Latest data from the SPR1NT trial has been released, again confirming the impact of Zolgensma for children at risk for SMA who are treated before the onset of symptoms. In sharp contrast to the natural course of SMA, children treated pre-emptively with Zolgensma are standing and walking, with few or no signs of neuromuscular disease.
A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
A group of healthcare professionals involved in the diagnosis and care of people SMA in Scotland published a paper in the Scottish Medicine Journal calling for the addition of SMA to the list of diseases on the newborn screening programme. In the paper, they reiterate: “Any possibility to identify SMA patients before the onset of symptoms, and hence begin treatment as early as possible, should be taken advantage of”.
March ‘It’s a real-life Hunger Games’: a lifesaving drug costs $2m, but not every child can get it
The Guardian has published an article emphasising the importance of treating SMA pre-symptomatically, with a focus in the difference in prognosis. Dr Elizabeth Wraige, a Consultant Paediatric Neurologist at Evelina London Children’s Hospital, is quoted in the article explaining the devastating impact of providing an SMA diagnosis to parents over the last ten years. “Parents feel as if they’ve been hit by a sledgehammer,” she says. “In that conversation, any hope that it was something that could be remedied was taken away,” says Wraige, a paediatric neurologist at Evelina London children’s hospital. “It was devastation.”
Study Highlights Gaps in Knowledge Among Prenatal Genetic Counsellors
A new study, “Evolving approaches to prenatal genetic counselling for Spinal Muscular Atrophy in the new treatment era”, has been published in the Journal of Genetic Counselling. Their results found that many prenatal genetic counsellors are unfamiliar with important concepts related to SMA and its treatment. A genetic counsellor is a specialist who can help patients understand complicated genetic information and what that information means for their health and family planning. As such, researchers are calling for improved communication to counsellors to help parents understand the condition and the idea of newborn screening so that they can better prepare for the future.
Newborn Screening: What Should Be Screened for and How?
Professor Laurent Servais, gave a talk at an online event entitled ‘Newborn Screening: What Should Be Screened for and How?’, held by the Progress Educational Trust (PET). Professor Servais showed several videos of children affected by spinal muscular SMA) to demonstrate the difference between children who received gene therapy before the onset of symptoms living normal lives – running around, climbing stairs – and children who received it after a later diagnosis, their lives saved but left unable to walk and requiring ventilation.
Professor Laurent Servais presented at the APPG on Genetic, Rare and Undiagnosed Conditions
He showed three studies, with three different medications, which all show that a patient treated after the onset of symptoms will never walk and have serious disabilities, compared to those treated before onset who will be able to walk/run and live normally.
New data for Roche’s Evrysdi (risdiplam) demonstrate long-term efficacy and safety in a broad population of people with spinal muscular atrophy (SMA)
Roche has published their latest interim results from the RAINBOWFISH study in pre-symptomatic babies with SMA under two months of age, which demonstrated its safety and efficacy in treating pre-symptomatic babies under two months of age with SMA.