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Tãtaru et al. Rare Dis Orphan Drugs J 2024;3:19 https://dx.doi.org/10.20517/rdodj.2024.08 Page 7 of 10

Cost-effectiveness analysis
Because of the high cost of treatment of Evrysdi™, Spinraza™, or Zolgensma™, the issue of the cost of genetic
screening and the additional cost of treatment is often not prioritized by the health authorities [4,32] . Several
studies analyzed the cost-effectiveness of implementing NBS, based on different case studies. In a study
carried out in England, the introduction of SMA screening identified approximately 56 infants suffering
from SMA yearly, accounting for 96% of cases, reporting savings of £62,191,531 and quality-adjusted life
years of 529, compared with a scenario where NBS would not have been implemented . In the
[33]
Netherlands, another study highlighted the cost-utility model that estimates the lifetime health impacts and
costs for identifying SMA, compared with a pathway without NBS, concluding that in the cohort studied
(17 patients), the number of quality-adjusted life-years was approximately 320 years, while the total
healthcare cost decreased by €12,014,949 . In Belgium, the lifetime cost-effectiveness showed a minimal
[34]
increased economic cost for healthcare services (€ 6,858,061 vs. € 6,738,120), but more quality-adjusted life
years, compared with a scenario of “no screening” (40.95 vs. 20.34), concluding that screening of SMA,
accompanied by early-stage treatment, is more cost-effective and it represents a comprehensive choice from
[35]
a societal perspective .

Newborns with fewer than four SMN2 copies typically receive partial reimbursement for treatment costs
from national authorities. In contrast, babies identified with double deletions of SMN1 and 4 or more copies
of SMN2, who also face a heightened risk of developing a late-onset form of SMA, have difficulties in
obtaining treatment coverage.

Is the solution developed by SMA Europe by creating the alliance to support national organizations
reproducible for other rare diseases?
With the development and approval of new therapeutic agents for an increasing number of rare diseases, it
is increasingly important to add new diseases to national NBS programs. A number of therapies now exist
for Duchenne Muscular Dystrophy (DMD) including gene therapy (Elevidys™), antisense drugs (Ataluren™,
Eteplirsen™, Viltolarsen™, Casimersen™), glucocorticoids (Deflazacort™, Vamorolone™), and Histone
deacetylase inhibitors (Givinostat™). While the typical age of onset is around 4 years of age, many patients
may benefit from early screening to ensure that therapies can be administered to reduce muscle loss .
[36]
Other examples where early intervention would benefit patients are those with inherited retinal diseases
such as Leber congenital amaurosis or retinitis pigmentosa for which Luxturna™ (Voretigene neparvovec)
has been approved, but only in patients with enough functioning cells in the retina .
[37]

The work conducted by the Alliance has demonstrated that an alliance is necessary to accelerate the
implementation of NBS for SMA and could be replicated for other diseases, which might contribute to
accelerating the expansion of NBS programs in Europe.

The World Health Organization guideline on the “Standards for improving the quality of care for small and
sick newborns in health facilities” acknowledges that “every child has the inherent right to life” (Art. 6) and
mentions that the goal is to “strive to ensure that no child is deprived of his or her right of access to such
health care services” and they should pursue full implementation of this right to diminish infant and child
mortality and to develop a preventive healthcare system (Art. 24) [38,39] . The guidance highlights the need to
respect, protect, and fulfill the newborns’ rights without any discrimination. However, despite sustained
international efforts to align different roles and responsibilities and to ensure a transparent and robust
model, the processing of requests at local per country or per region levels remains constrained by different
factors (absence of registries, qualified personnel, availability and complexity of diagnostic services,
healthcare expenditure, lack of clear procedures, etc.).