SMA Ireland calls on Government to launch a pilot programme to include Spinal Muscular Atrophy (SMA) in heel prick test for newborn babies
Ireland is falling behind European countries and must urgently expand the number of rare diseases included in its existing nationwide heel prick test.
6 December 2022
Patient advocacy group SMA Ireland is calling on the Government to launch a pilot programme to screen newborns for spinal muscular atrophy (SMA). This would be done via the heel prick test, already administered in Ireland to each baby when they are just a few days old.
The introduction of this pilot screening programme has the potential to more quickly identify the six babies born in Ireland every year with SMA and ensure they have the opportunity to promptly receive life-saving treatment.
SMA is a rare, genetic neuromuscular condition that, when left untreated, causes progressive and irreversible muscle degeneration. In its most severe and common form, this devastating disease can lead to the damage of all muscle functions, including those needed to move, talk, swallow and breathe.
At an event hosted by SMA Ireland in Dublin’s Mansion House, its co-founder Jonathan O’ Grady called on the Government to establish a pilot programme that screens newborns for SMA.
Mr O’ Grady said: “An average of six babies are born with SMA in Ireland each year. These babies and their families can’t afford to wait any longer. Other European countries have launched pilot programmes for SMA while their health ministries reviewed its inclusion in the heel prick test. We are calling on the Government to do the same here. It would allow for swift diagnosis and treatment of babies and would provide real-time data on the efficacy of such a programme.”
SMA begins at birth but frequently symptoms do not present for some months. It is not unusual for babies with the condition to appear healthy. By the time symptoms are recognised and a diagnosis is confirmed, irreparable nerve damage has already occurred. Without treatment, 90% of children with the severest form of SMA do not live past 24 months. SMA medicines now exist and are available in Ireland. These drugs have the potential to dramatically improve the life quality of SMA babies, but timing is a critical variable.
Speaking at the event today, father David Ryan said: “There are treatments available for SMA and they work best when given to pre-symptomatic babies. The difference is black and white with my own two boys, Luke and Seán, who both have SMA. Luke was diagnosed late with SMA, and he now requires round-the-clock care with a night nurse, and a bug or flu will mean being admitted to intensive care in hospital. Seán on the other hand was treated very early on as a newborn infant - he’ll be three in January and he lives a virtually normal life. It is cruel that treatment is available but we are not testing babies for SMA through the heelprick test. If we do, we’ll give those babies with SMA their best chance at a healthy and normal life.”
Aisling Donoher, mother of three-year old Dan who also has SMA, said: “Our son Dan was not diagnosed with SMA until he was almost 9 months old. By then, he had lost the ability to lift his legs, maintain head control and lie on his belly. He couldn't turn his head to meet his shoulders or open his hands, and he struggled with breathing and swallowing. It’s utterly heart breaking, and early testing and treatment could have changed so much for Dan. This is irreversible for him, but it shouldn't be for the children that come after Dan. Time equals neurons with SMA, and it is crucial that SMA is added to the heel prick test.”
Prof Declan O’Rourke, Consultant Paediatric Neurologist at Children's Health Ireland at Temple Street said: “The earlier that SMA is detected and treated, the better the clinical outcome. Studies confirm that it is less costly and more effective to screen for SMA in the heel prick test than to not. Testing babies that are just a few days old for SMA through routine screening means we can make a diagnosis before they are symptomatic and administer treatment immediately. These children can then go on to lead relatively normal lives, reducing their need to access regular clinical care.”
According to research from Charles River Associates, Ireland is currently 20th out of 30 European countries in terms of the number of diseases screened for in countrywide heel prick tests. Ireland currently tests for 9 conditions through its heel prick test. Some other European countries screen for up to 40 conditions, including SMA. At the moment, nine European countries are screening for SMA and five more have either made the decision to do so shortly or launched pilot programmes on its inclusion.
Ireland’s National Screening Advisory Committee (NSAC) was established in 2019, as an independent advisory committee to the Minister for Health on all new proposals for population-based screening programmes as well as revisions to existing ones. In November 2021, the NSAC announced its first annual “open call” for proposals. SMA Ireland completed a submission advocating for the inclusion of SMA in the heel prick test. Twelve months later, the NSAC recommended that HIQA consider commencing a Health Technology Assessment (HTA) for the inclusion of certain conditions, including SMA. No explanation was given as to why this decision took so long. Further, there is still no line of sight regarding if such an HTA will be authorised, nor a timeline as to how long such a study is expected to take.
The NSAC’s second annual call opened on Wednesday 30 November for new proposals, but a final decision on the original proposals submitted last year has yet to be made.
Vicky McGrath, Chief Executive of Rare Diseases Ireland said: “The long delay, almost a year, from proposal submission to only now learn that proposals are being considered for a Health Technology Assessment is very disappointing and highlights the need to increase funding and investment in the NSAC and its processes. We need to make certain that the NSAC and other organisations needed to expedite expansion of newborn bloodspot screening in Ireland, including HIQA and the HSE, are being properly resourced. The heel prick test helps save lives and improves quality of life for children and their families; it must be prioritised for investment and expansion.”
The SMA Ireland event, which was supported by Novartis Ireland, featured a panel that advocated for the screening of more rare diseases for newborns in Ireland, with briefings from Prof O’Rourke; Milan Ferguson, Life Sciences Policy & Strategy Consultant at Charles River Associates; Vicky McGrath; and David Ryan, the father of two children with SMA. In attendance were a cross-party range of Members of the Oireachtas in addition to health officials and executives, patient advocacy groups and diplomats.
NOTES TO THE EDITOR
- SMA Ireland was established in 2019 and is a voluntary organisation that serves as the collective voice for the children and adults in Ireland with SMA.