Pediatric Neuromuscular Diseases: Current Concepts, Challenges and Opportunities

Dear Colleagues,

Pediatric neuromuscular disorders (NMD) in the era of precision medicine and disease-modifying treatment (DMT) have substantially different primary treatment strategies, courses, and outcomes now. Multidisciplinary team approaches, which are mandatory in the standards of care for paediatric NMD and long-term assessment, are required for facing the new natural history phenotypes, prolonged life expectancy, and disease course complications. The immunogenicity and immunological response to DMT, resistance to the second or the third line immunotherapy for chronic immune-mediated NMDs, and related pathogenic mechanisms open new research targets. New hopes are accompanied by new challenges for the scientific and clinical infrastructures supporting the development and delivery of DMT and demand the continuous education of different specialists’ profiles in organized team support. DMT is (still) not a cure for paediatric patients with genetic NMDs. Early genetic diagnosis (prenatal, neonatal, and preimplantation) using NGS and early treatment in pre-symptomatic phase, including foetus in utero, have the best outcomes. The future is in the next generation of viral vectors, DMT with improved body-wide distribution, control elements limiting expression levels, the fine tuning of translation and protein expression, preventing neurodegeneration and even genotoxicity, including clinical trials (N = 1) enabling a cure for single patients with rare gene mutations, and new NMD treatment modalities and guidelines. 

We invite: neuroscientists, clinicians specialists in pediatric NMD, neuro pediatricians, geneticists, clinical and research immunologists,  pharmaco and health care economists, clinical psychologists, pulmonologists dealing with chronic noninvasive and invasive ventilation, specialists in NMD physiotherapy and rehabilitation, research and clinical oncologists, and foetal and neonatal neurologists to submit their original work or reviews to this Special Issue entitled ‘Pediatric Neuromuscular Diseases: Current Concepts, Challenges and Opportunities’.

Prof. Dr. Nina Barišić
Guest Editor

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