Universal Newborn Screening for Spinal Muscular Atrophy

Oskoui, Maryam; Dangouloff, Tamara; Servais, Laurent

doi:10.1001/jamapediatrics.2024.0489

JAMA Pediatr

2024

DOI: 10.1001/jamapediatrics.2024.0489

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Universal Newborn Screening for Spinal Muscular Atrophy

Maryam Oskoui,

Tamara Dangouloff,

Laurent Servais

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2024

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Cited by 3 publications

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SMA-Screening für Neugeborene

Kerbl

2024

Monatsschr Kinderheilkd

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SMA-Screening für Neugeborene

Kerbl

2024

Monatsschr Kinderheilkd

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2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Kirschner,

Bernert,

Butoianu

et al. 2024

European Journal of Paediatric Neurology

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Taldefgrobep Alfa and the Phase 3 RESILIENT Trial in Spinal Muscular Atrophy

Servais,

Lair,

Connolly

et al. 2024

IJMS

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Spinal muscular atrophy (SMA) is a rare, genetic neurodegenerative disorder caused by insufficient production of survival motor neuron (SMN) protein. Diminished SMN protein levels lead to motor neuron loss, causing muscle atrophy and weakness that impairs daily functioning and reduces quality of life. SMN upregulators offer clinical improvements and increased survival in SMA patients, although significant unmet needs remain. Myostatin, a TGF-β superfamily signaling molecule that binds to the activin II receptor, negatively regulates muscle growth; myostatin inhibition is a promising therapeutic strategy for enhancing muscle. Combining myostatin inhibition with SMN upregulation, a comprehensive therapeutic strategy targeting the whole motor unit, offers promise in SMA. Taldefgrobep alfa is a novel, fully human recombinant protein that selectively binds to myostatin and competitively inhibits other ligands that signal through the activin II receptor. Given a robust scientific and clinical rationale and the favorable safety profile of taldefgrobep in patients with neuromuscular disease, the RESILIENT phase 3, randomized, placebo-controlled trial is investigating taldefgrobep as an adjunct to SMN upregulators in SMA (NCT05337553). This manuscript reviews the role of myostatin in muscle, explores the preclinical and clinical development of taldefgrobep and introduces the phase 3 RESILIENT trial of taldefgrobep in SMA.

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Universal Newborn Screening for Spinal Muscular Atrophy

Cited by 3 publications

References 22 publications

SMA-Screening für Neugeborene

SMA-Screening für Neugeborene

2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Taldefgrobep Alfa and the Phase 3 RESILIENT Trial in Spinal Muscular Atrophy

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