Why the study?
Prognosis of patients with spinal muscular atrophy identified by newborn screening cannot be inferred from clinical trials conducted in presymptomatic individuals, as disease presents very early in some cases.
Do disease-modifying treatments improve neurological outcomes in patients with spinal muscular atrophy identified by newborn screening?
Do disease-modifying treatments improve neurological outcomes in patients with spinal muscular atrophy identified by newborn screening?
Disease-modifying treatments in SMA patients identified by newborn screening can lead to significant motor milestone achievements, such as sitting and walking, even when symptoms are present at treatment onset.
Answers are grounded in this paper and cite their sources.
Supports disease-modifying therapy even after symptom onset in NBS-identified SMA; extends evidence to symptomatic starters.
BACKGROUND: In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries. However, prognosis of those patients cannot be inferred from clinical trials conducted in presymptomatic individuals, as in some cases disease presents very early. METHODS: we conducted a systematic review of articles published up to January 2023. RESULTS: copies followed-up for at least 18 months who presented with symptoms at treatment onset, 3 achieved the walking milestone and all but one were able to sit without support. CONCLUSIONS: copies and the initial neurological status of the patient.
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Aragon‐Gawinska et al. (2023) studied this question.
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