Poster Presentations

The 2018 international care recommendations for spinal muscular atrophy (SMA) were published prior to the availability of disease-modifying treatments (DMTs); These guidelines; were largely focused on paediatric populations and did not account for the novel and evolving phenotypes; observed as a result of treatment advances. SMA Care UK is a collaborative initiative involving healthcare professionals; people living with SMA and other stakeholders. Its goal is to update evidence-based standards of care and harmonise best practice in response to the priorities of the SMA community and the changing landscape of SMA. The 2018 standards provided a solid foundation for respiratory management in SMA. However; the emergence of a broader phenotypic spectrum and a greater understanding of natural history; necessitates a more individualised approach to assessments and interventions. A multidisciplinary working group of those living with SMA; expert respiratory; neuromuscular and intensive care clinicians; specialist physiotherapists and nurses undertook a comprehensive review of the current recommendations for respiratory care in people with SMA. Drawing on emerging evidence; evolving clinical practice and areas of unmet need; guidance covering the assessment; management and treatment of respiratory complications has been developed spanning the paediatric-to-adult continuum. The new guidance addresses the use of ventilatory support and enhanced secretion clearance; as well as providing more advice around emergency care in the context of UK health care settings. The updated guidelines have been reviewed and updated following consultation with relevant patient and clinical networks to ensure meaningful consensus. The group is working with the British Thoracic society; British Paediatric Respiratory Society and NICE to ensure guidance is formally endorsed and published. In parallel; gaps in evidence have been highlighted and strategies considered to address these; including future evidence-gathering and collaboration with international networks to ensure that updated guidance remains aligned with global best practice.

doi:10.1111/dmcn.70118

Poster Presentations

Developmental Medicine & Child Neurology 2026 Open access

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Authors: The 2018 international care recommendations for spinal muscular atrophy (SMA) were published prior to the availability of disease-modifying treatments (DMTs), These guidelines, were largely focused on paediatric populations and did not account for the novel and evolving phenotypes, observed as a result of treatment advances. SMA Care UK is a collaborative initiative involving healthcare professionals, people living with SMA and other stakeholders. Its goal is to update evidence-based standards of care and harmonise best practice in response to the priorities of the SMA community and the changing landscape of SMA. The 2018 standards provided a solid foundation for respiratory management in SMA. However, the emergence of a broader phenotypic spectrum and a greater understanding of natural history, necessitates a more individualised approach to assessments and interventions. A multidisciplinary working group of those living with SMA, expert respiratory, neuromuscular and intensive care clinicians, specialist physiotherapists and nurses undertook a comprehensive review of the current recommendations for respiratory care in people with SMA. Drawing on emerging evidence, evolving clinical practice and areas of unmet need, guidance covering the assessment

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management and treatment of respiratory complications has been developed spanning the paediatric-to-adult continuum. The new guidance addresses the use of ventilatory support and enhanced secretion clearance, as well as providing more advice around emergency care in the context of UK health care settings. The updated guidelines have been reviewed and updated following consultation with relevant patient and clinical networks to ensure meaningful consensus. The group is working with the British Thoracic society, British Paediatric Respiratory Society and NICE to ensure guidance is formally endorsed and published. In parallel, gaps in evidence have been highlighted and strategies considered to address these, including future evidence-gathering and collaboration with international networks to ensure that updated guidance remains aligned with global best practice.

DOI: 10.1111/dmcn.70118

Cited by: 1

Abstract

Objectives: Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene therapy that delivers an engineered, functional form of dystrophin for the treatment of Duchenne muscular dystrophy (DMD).Method: ENDEAVOR (NCT04626674; Phase 1b, open label) and ENVOL (NCT06128564; Phase 2, open label) assess delandistrogene moxeparvovec in multiple cohorts of patients with DMD.ENDEAVOR Cohort 4 (C4) enrolled ambulatory patients aged ≥3 to

Fields of Study & Subjects

BRCA gene mutations in cancer Epilepsy research and treatment Psychosomatic Disorders and Their Treatments

Publication details

Journal / source: Developmental Medicine & Child Neurology
Publisher: Wiley
Volume: 68
Issue: S1
Pages: S22–S139
Publication date: 1 January 2026
Language: EN