Evidence map›Paper›PMID 39593137›Full record

ArticleOrphanet journal of rare diseases2024

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 and 12 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07412821 (A Phase 1b, Open Label, Single and Multiple Ascending Dose-escalation Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of Subcutaneous Adenylosuccinic Acid), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07412821 phase1enrolling by invitationnot on this mapstarted 2026, after this paper: background citation

A Phase 1b, Open Label, Single and Multiple Ascending Dose-escalation Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of Subcutaneous Adenylosuccinic Acid (ASA) in Two Siblings With Adenylosuccinate Synthase 1 (ADSS1) Deficient Myopathy.

TypeinterventionalSponsorCure ADSSL1Ran2026 to 2027Enrolled2ConditionsAdenylosuccinate Synthase 1 Deficient MyopathyArmsadenylosuccinic acid
3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Trial
  2. Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Emma RybalkaInstitute for Health and Sport, Victoria University, Melbourne, VIC, Australia. emma.rybalka@vu.edu.au.ORCID http://orcid.org/0000-0002-4854-0036
Hyung Jun ParkDepartment of Neurology, Gangnam Severance Hospital, Yonshei University College of Medicine, Seoul, Republic of Korea.
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health And NeuroSciences (NIMHANS), Bengaluru, India.
Dipti BaskarDepartment of Neurology, National Institute of Mental Health And NeuroSciences (NIMHANS), Bengaluru, India.
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 5B2, Canada.
Hacer DurmusDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Yang XiaXiangya Hospital, National Medical Metabolomics International Collaborative Research Center, Central South University, Changsha, China.
Linlin WanDepartment of Radiology, Xiangya Hospital of Central South University, Changsha, China.
Perry B ShiehDepartments of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, USA.
Behzad MoghadaszadehDivision of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Alan H BeggsDivision of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
David L MackInstitute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
Alec S T SmithInstitute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
Wendy Hanna-RoseDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
Hyder A JinnahDepartments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, USA.
Cara A TimpaniInstitute for Health and Sport, Victoria University, Melbourne, VIC, Australia.
Min ShenDivision of Preclinical Innovation, National Centre for Advancing Translational Science, National Institutes of Health, Rockville, MD, USA.
Jaymin UpadhyayDepartment of Anaesthesia, Critical Care and Pain Management, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Jeffrey J BraultCenter for Musculoskeletal Health, Department of Anatomy, Cell Biology & Physiology, Indiana School of Medicine, Indianapolis, IN, USA.
Matthew D HallDivision of Preclinical Innovation, National Centre for Advancing Translational Science, National Institutes of Health, Rockville, MD, USA.
Naveen BawejaCure ADSSL1, Glendale, CA, USA.
Priyanka KakkarCure ADSSL1, Glendale, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Adenylosuccinate synthetase 1 myopathyADSS1 myopathyBiomarkersCardiac muscleClinical presentationConsortiumGuidelinesInborn error of metabolismPre-clinical modelsPurine disorderSkeletal muscleTherapeuticsUltra-rare neuromuscular disease

Identifiers

PMID39593137
PMCPMC11590305

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.