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

被引：0

作者：

Rybalka, Emma ^{[1
,2
]}

Park, Hyung Jun ^{[3
]}

Nalini, Atchayaram ^{[4
]}

Baskar, Dipti ^{[4
]}

Polavarapu, Kiran ^{[5
]}

Durmus, Hacer ^{[6
]}

Xia, Yang ^{[7
]}

Wan, Linlin ^{[8
]}

Shieh, Perry B. ^{[9
]}

Moghadaszadeh, Behzad ^{[10
]}

Beggs, Alan H. ^{[10
]}

Mack, David L. ^{[11
]}

Smith, Alec S. T. ^{[11
]}

Hanna-Rose, Wendy ^{[12
]}

Jinnah, Hyder A. ^{[13
]}

Timpani, Cara A. ^{[1
,2
]}

Shen, Min ^{[14
]}

Upadhyay, Jaymin ^{[15
,16
]}

Brault, Jeffrey J. ^{[17
]}

Hall, Matthew D. ^{[14
]}

Baweja, Naveen ^{[18
]}

Kakkar, Priyanka ^{[18
]}

机构：

[1] Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, Australia

[2] Australian Inst Musculoskeletal Sci, Inherited & Acquired Myopathies Program, St Albans, Vic, Australia

[3] Yonshei Univ, Gangnam Severance Hosp, Dept Neurol, Coll Med, Seoul, South Korea

[4] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India

[5] Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON K1H 5B2, Canada

[6] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkiye

[7] Cent South Univ, Xiangya Hosp, Natl Med Metabol Int Collaborat Res Ctr, Changsha, Peoples R China

[8] Cent South Univ, Xiangya Hosp, Dept Radiol, Changsha, Peoples R China

[9] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA

[10] Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA

[11] Univ Washington, Inst Stem Cell & Regenerat Med, Seattle, WA USA

[12] Penn State Univ, Dept Biochem & Mol Biol, University Pk, PA USA

[13] Emory Univ, Dept Neurol Human Genet & Pediat, Atlanta, GA 30322 USA

[14] NIH, Div Preclin Innovat, Natl Ctr Adv Translat Sci, Rockville, MD 20850 USA

[15] Harvard Med Sch, Boston Childrens Hosp, Dept Anaesthesia Crit Care & Pain Management, Boston, MA 02115 USA

[16] Harvard Med Sch, McLean Hosp, Dept Psychiat, Belmont, MA 02478 USA

[17] Indiana Sch Med, Ctr Musculoskeletal Hlth, Dept Anat Cell Biol & Physiol, Indianapolis, IN 46202 USA

[18] Cure ADSSL1, Glendale, CA USA

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

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; ELECTRICAL-IMPEDANCE MYOGRAPHY; PURINE NUCLEOTIDE CYCLE; MUSCULAR-DYSTROPHY; NEMALINE MYOPATHY; GENE; DISH;

D O I：

10.1186/s13023-024-03429-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页数：18