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, vol.19, no.1, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 19 Issue: 1
- Publication Date: 2024
- Doi Number: 10.1186/s13023-024-03429-x
- Journal Name: Orphanet Journal of Rare Diseases
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, MEDLINE, Directory of Open Access Journals
- Keywords: Adenylosuccinate synthetase 1 myopathy, ADSS1 myopathy, Biomarkers, Cardiac muscle, Clinical presentation, Consortium, Guidelines, Inborn error of metabolism, Pre-clinical models, Purine disorder, Skeletal muscle, Therapeutics, Ultra-rare neuromuscular disease
- Istanbul University Affiliated: Yes
Abstract
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.