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.

There is a process in place to ensure that decisions made about newborn screening are robust. We understand and agree it is important that any changes made to a national programme of newborn screening are well considered and plans are properly thought through.

We welcome the engagement we have had from the UK NSC and NHS England to work together collaboratively to ensure that a robust and well-informed decision can be made as soon as possible. We are working together to try to minimise unnecessary delays to a complex process, which involves committee-led decision making and extensive operational planning. We also hope to identify ways in which process changes might be made in the future to the benefit of other rare conditions that need to be assessed for newborn screening.

However, we also recognise the intense frustration and anger that many members of the SMA community feel when they look at the different outcomes achieved by babies born with SMA in the UK since treatments became available because there is no newborn screening for SMA. Without newborn screening, most babies are diagnosed with SMA following the emergence of symptoms.

Once an infant starts showing symptoms of SMA, there is already irreversible damage to the nervous system, which affects muscles and movement. Even when treatment is initiated once symptoms have appeared, most of these infants will never walk independently and many will need mechanical ventilation, nutritional support and 24/7 care. This represents a high cost to children and their families, the NHS and society.

Conversely, when treatment is given before a baby shows any symptoms – something made possible through newborn screening – those children can experience a life without severe and progressive weakness. For babies already showing symptoms at birth, newborn screening offers the earliest possible intervention and therefore the best possible outcomes from treatment.

So, we are launching a barometer that will be updated on a monthly basis. The barometer will 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 illustrates the human cost of every avoidable delay to a complicated process, delays which are felt so acutely by our community.

We know and massively appreciate that people are working as hard as they can to streamline the process for SMA and 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.

Notes on methodology:

To work out the number of babies born with SMA since treatments have been available in the UK, we have conducted the following calculation:

• Number of days since SMC and NICE approval of nusinersen (SpinrazaTM) for Type 1, 2 and 3, divided by five days.

• From Spring 2017 onwards, babies with SMA Type 1 in the UK began to receive this treatment via the pharma funded Expanded Access Programme.

• Routine NHS Funding of nusinersen treatment for these babies was approved in Scotland in May 2018. However, this was not extended to those with SMA Type 2 and 3 until July 2019. This is when NHS funding for the treatment became available across the rest of the UK via a Managed Access Agreement.

• We have decided to use 1 July 2019 as our baseline date as this is when treatment was first made available routinely for SMA Types 1, 2 and 3 by the SMC.

• Five is an important number because one baby is born every five days with SMA in the UK.

• The calculation does not account for the small number of babies who are already eligible for newborn screening because they have a sibling who has SMA.