The UK SMA Newborn Screening Alliance is a group of expert clinicians, academics and patient organisations dedicated to securing the earliest possible introduction of newborn screening (NBS) for SMA in the UK.
Who We Are
The Alliance is chaired by Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre, and comprises leading SMA experts in the clinical and academic community and patient organisations, including Spinal Muscular Atrophy UK and Muscular Dystrophy UK.
Our Steering Group is the key decision-making part of our organisation but we also work closely with the wider patient and clinical community. This includes working with partners such as the European Alliance for Newborn Screening and the Newborn Screening Collaborative.
In 2018, the UK National Screening Committee (UK NSC) decided not to recommend adding SMA to the national screening programme. The Alliance is focused on the following objectives:
• Contribute to the development of evidence on newborn screening for SMA and provide expert input to the UK National Screening Committee
• Identify opportunities and advocate for an accelerated recommendation on SMA newborn screening
• Ensure that the wider SMA community is informed about progress towards introducing newborn screening and has the opportunity to support and be involved in advocacy
• Support wider efforts by the rare disease community to improve the UK process for expanding newborn bloodspot screening so that more children born with rare diseases are able to benefit from earlier diagnosis and treatment
The Importance of Newborn Screening
Once an infant starts showing symptoms of SMA, there is already irreversible damage to the nervous system which affects muscles and movement. A treatment given before a baby shows any symptoms can significantly improve treatment outcomes.
The lifetime costs of managing the impact of SMA – the healthcare, equipment and home adaptations, and the support at school and work – can be huge. Screening at birth will massively reduce these costs.
Without newborn screening for SMA, families will unknowingly miss this critical treatment window. This is why ten European countries have already approved SMA screening for newborns.
Spinal Muscular Atrophy UK and Muscular Dystrophy UK are acting as joint Secretariat for the alliance. They are working closely with Alice Fabre, the Project Manager for the alliance on the overall management and fulfilment of the Alliance’s core objectives. SMA UK is funding the start-up costs of the project manager role.
If you have any further questions or would like further information, please get in touch with Alice at email@example.com