G.P.248: Clinical trial readiness of paediatric neuromuscular patients in Ireland

Abstract

An estimated 85–90% of all paediatric neuromuscular patients in the Republic of Ireland are followed at one neuromuscular centre, located at the Central Remedial Clinic, Dublin, resulting in centralised and coordinated care for the vast majority of Irish paediatric neuromuscular patients. The neuromuscular cohort followed by two neuromuscular specialists at this main centre totals 183 patients (ages 4 months–25 years), and the most common molecularly confirmed diagnoses are: Duchenne muscular dystrophy (n = 61), myotonic dystrophy (n = 16), spinal muscular atrophy (n = 14), merosin deficient congenital muscular dystrophy (n = 8), RYR1-related myopathy (n = 4) and collagen VI-related myopathy (n = 3). Future clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, merosin deficient congenital muscular dystrophy and collagen VI-related myopathies are presently in planning stages. Given the molecular characterization of these Irish patient cohorts, their close pulmonary and cardiology surveillance and their six monthly neuromuscular clinic assessments, these neuromuscular patient subgroups are clinical trial ready. Furthermore, the Central Remedial Clinic, Dublin, Ireland provides an ideal setting for future clinical trials, with its highly-trained and large-sized physiotherapy and occupational therapy teams, adequate space and facilities for motor function testing and the availability of support and nursing staff. Presently for neuromuscular patients in Ireland, participation in clinical trials would require that they travel to the United Kingdom, which is costly as well as burdensome for neuromuscular patients and their families. Given the availability of neuromuscular clinical expertise, an excellent facility for coordinated neuromuscular care and motor assessments and the commitment of patients and their families to participate in upcoming clinical trials, establishing a neuromuscular clinical trial site in Dublin is an achievable and important goal.