Current Insights in Ultra-Rare Adenylosuccinate Synthetase 1 Myopathy – Meeting Report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Orphanet Journal of Rare Diseases（2024）

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摘要

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.

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关键词

Adenylosuccinate synthetase 1 myopathy,ADSS1 myopathy,Inborn error of metabolism,Purine disorder,Ultra-rare neuromuscular disease,Skeletal muscle,Cardiac muscle,Clinical presentation,Pre-clinical models,Therapeutics,Biomarkers,Consortium,Guidelines

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