Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children. This study evaluated the efficacy and safety of OA in patients with SMA type 1 in the UK, including patients ≥2 years old and weighing ≥13.5 kg.

Long-term Natural History of Pediatric Dominant and Recessive -Related Myopathy.

Background And Objectives: -related myopathies are the most common congenital myopathies, but long-term natural history data are still scarce. We aim to describe the natural history of dominant and recessive -related myopathies.

Methods: A cross-sectional and longitudinal retrospective data analysis of pediatric cases with -related myopathies seen between 1992-2019 in 2 large UK centers.

Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation.

Background: Duchenne muscular dystrophy (DMD) is a rare disease that causes the progressive loss of motor abilities such as walking. Standard treatment includes physiotherapy. No trial has evaluated whether or not adding aquatic therapy (AT) to land-based therapy (LBT) exercises helps to keep muscles strong and children independent.

Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial.

Background: Standard treatment of Duchenne muscular dystrophy (DMD) includes regular physiotherapy. There are no data to show whether adding aquatic therapy (AT) to land-based exercises helps maintain motor function. We assessed the feasibility of recruiting and collecting data from boys with DMD in a parallel-group pilot randomised trial (primary objective), also assessing how intervention and trial procedures work.

Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy.

Background And Purpose: The aims of this study were to develop a clinical assessment scale to measure functional ability in ambulant boys with Duchenne muscular dystrophy and to determine the reliability of the scale in multiple centres in the UK.

Methods: Focus groups and workshops were held with experienced paediatric neuromuscular physiotherapists to determine scale content. A manual was prepared with accompanying videos, and training sessions were conducted.