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

Rybalka E., Park H. J., Nalini A., Baskar D., Polavarapu K., Durmus H., ...Daha Fazla

Orphanet Journal of Rare Diseases, cilt.19, sa.1, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 1
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1186/s13023-024-03429-x
  • Dergi Adı: Orphanet Journal of Rare Diseases
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: 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
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.