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 Americ
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.
Authors
- Behzad Moghadaszadeh (ORCID: https://orcid.org/0000-0001-9787-0106)
- Yang Xia (ORCID: https://orcid.org/0000-0002-8059-6179)
- Emma Rybalka (ORCID: https://orcid.org/0000-0002-4854-0036)
- David L. Mack (ORCID: https://orcid.org/0000-0003-1340-7056)
- Matthew D. Hall (ORCID: https://orcid.org/0000-0002-5073-442X)
- Cara A. Timpani
- Jaymin Upadhyay (ORCID: https://orcid.org/0000-0002-8682-163X)
- Atchayaram Nalini (ORCID: https://orcid.org/0000-0001-9791-3639)
- Hacer Durmuş (ORCID: https://orcid.org/0000-0002-6426-676X)
- Wendy Hanna‐Rose (ORCID: https://orcid.org/0000-0002-5566-4758)
- Hyder A. Jinnah (ORCID: https://orcid.org/0000-0003-1531-3969)
- Dipti Baskar (ORCID: https://orcid.org/0000-0002-8362-7380)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Kiran Polavarapu (ORCID: https://orcid.org/0000-0002-8879-6001)
- Alec S.T. Smith (ORCID: https://orcid.org/0000-0002-0001-8484)
- Jeffrey J. Brault (ORCID: https://orcid.org/0000-0003-3503-0528)
- Perry B. Shieh (ORCID: https://orcid.org/0000-0001-7145-7663)
- Linlin Wan (ORCID: https://orcid.org/0000-0002-3192-309X)
- Hyung Jun Park (ORCID: https://orcid.org/0000-0003-4165-8901)
- Min Shen
- Naveen Baweja
- Priyanka Kakkar
Institutions
- Boston Children's Hospital (US)
- National Institutes of Health (US)
- Pennsylvania State University (US)
- Harvard University (US)
- Central South University (CN)
- Emory University (US)
- University of California, Los Angeles (US)
- University of Washington (US)
- Children's Hospital of Eastern Ontario (CA)
- McLean Hospital (US)
- Australian Institute for Musculoskeletal Science (AU)
- Gangnam Severance Hospital (KR)
- National Center for Advancing Translational Sciences (US)
- Xiangya Hospital Central South University (CN)
- Indiana University – Purdue University Indianapolis (US)
- Istanbul University (TR)
- National Institute of Mental Health and Neurosciences (IN)
- Victoria University (AU)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-26
- DOI
- https://doi.org/10.1186/s13023-024-03429-x
- Citations
- 8
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 1.87
Funders
- National Institutes of Health
- National Center for Advancing Translational Sciences