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

Emma Rybalka; Hyung Jun Park; Atchayaram Nalini; Dipti Baskar; Kiran Polavarapu; Hacer Durmus; Yang Xia; Linlin Wan; Perry B Shieh; Behzad Moghadaszadeh; Alan H Beggs; David L Mack; Alec S T Smith; Wendy Hanna-Rose; Hyder A Jinnah; Cara A Timpani; Min Shen; Jaymin Upadhyay; Jeffrey J Brault; Matthew D Hall; Naveen Baweja; Priyanka Kakkar

doi:10.1186/s13023-024-03429-x

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 J Rare Dis. 2024 Nov 26;19(1):438. doi: 10.1186/s13023-024-03429-x.

Authors

Emma Rybalka^{1

2}, Hyung Jun Park³, Atchayaram Nalini⁴, Dipti Baskar⁴, Kiran Polavarapu⁵, Hacer Durmus⁶, Yang Xia⁷, Linlin Wan⁸, Perry B Shieh⁹, Behzad Moghadaszadeh¹⁰, Alan H Beggs¹⁰, David L Mack¹¹, Alec S T Smith¹¹, Wendy Hanna-Rose¹², Hyder A Jinnah¹³, Cara A Timpani^{14

15}, Min Shen¹⁶, Jaymin Upadhyay^{17

18}, Jeffrey J Brault¹⁹, Matthew D Hall¹⁶, Naveen Baweja²⁰, Priyanka Kakkar²⁰

Affiliations

¹ Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia. emma.rybalka@vu.edu.au.
² Inherited and Acquired Myopathies Program, Australian Institute for Musculoskeletal Science, St Albans, VIC, Australia. emma.rybalka@vu.edu.au.
³ Department of Neurology, Gangnam Severance Hospital, Yonshei University College of Medicine, Seoul, Republic of Korea.
⁴ Department of Neurology, National Institute of Mental Health And NeuroSciences (NIMHANS), Bengaluru, India.
⁵ Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 5B2, Canada.
⁶ Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
⁷ Xiangya Hospital, National Medical Metabolomics International Collaborative Research Center, Central South University, Changsha, China.
⁸ Department of Radiology, Xiangya Hospital of Central South University, Changsha, China.
⁹ Departments of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, USA.
¹⁰ Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹¹ Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
¹² Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
¹³ Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, USA.
¹⁴ Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia.
¹⁵ Inherited and Acquired Myopathies Program, Australian Institute for Musculoskeletal Science, St Albans, VIC, Australia.
¹⁶ Division of Preclinical Innovation, National Centre for Advancing Translational Science, National Institutes of Health, Rockville, MD, USA.
¹⁷ Department of Anaesthesia, Critical Care and Pain Management, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁸ Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA.
¹⁹ Center for Musculoskeletal Health, Department of Anatomy, Cell Biology & Physiology, Indiana School of Medicine, Indianapolis, IN, USA.
²⁰ Cure ADSSL1, Glendale, CA, USA.

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.

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