ORPHA:81
Antisynthetase syndrome
Also known as: AS syndrome · ASS · ASyS · Anti-ARS syndrome · Anti-Jo1 syndrome · Anti-aminoacyl-tRNA synthetase syndrome
Publications
4,318,888
Trials
7
Interventional, condition-specific
Researchers
1,248
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare inflammatory (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019344
- MeSH:C537778
- UMLS:C5959873
Additional Mondo synonyms (1)
anti-Jo1 syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
4,318,888 matched papers (2,340,144 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
7 matched on ClinicalTrials.gov (4 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
4,318,888
4,318,888 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
4,318,888 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
2,340,144 in the last 10 years · low confidence
Phrase hits: 4,318,888 · MeSH hits: 0
Who's working on it?
1,248
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Aggarwal R8 papers · 2026
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Papers in Europe PMC - 02Stenzel W8 papers · 2026
Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 03Mammen AL7 papers · 2026
Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 04Pinal-Fernandez I7 papers · 2026
Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 05Casal-Dominguez M6 papers · 2026
Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 06Allenbach Y5 papers · 2026
Department of Internal Medicine and Clinical Immunology, Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France.
Papers in Europe PMC - 07Cavagna L5 papers · 2026
Department of Internal Medicine and Therapeutics, Università di Pavia, Pavia, Italy; Division of Rheumatology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Electronic address: lorenzo.cavagna@unipv.it.
Papers in Europe PMC - 08Li S5 papers · 2026
Department of Rheumatology, Key Myositis Laboratories, China-Japan Friendship Hospital, Beijing, China.
Papers in Europe PMC - 09Ruffer N5 papers · 2026
III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 10Sambataro G5 papers · 2026
Department of Medicine and Surgery, University of Enna "Kore", Enna, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
low confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05979441·ENROLLING BY INVITATION·A Study to Assess the Long-term Safety and Efficacy of a Subcutaneous Formulation of Efgartigimod in Adults With Active Idiopathic Inflammatory Myopathy
Conditions: Myositis · Active Idiopathic Inflammatory Myopathy · Dermatomyositis · Polymyositis·Matched via name phrase
- NCT07391605·RECRUITING·Descartes-08 in Autoantibody Myositis
Conditions: Antisynthetase Syndrome·Matched via name phrase
- NCT07406932·RECRUITING·A Study on the Efficacy and Safety of JAK Inhibitors Versus Calcineurin Inhibitors as Initial Therapy for Interstitial Lung Disease Associated With Antisynthetase Syndrome
Conditions: Antisynthetase Syndrome · Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT06613490·RECRUITING·An Exploratory Clinical Study of CD19 CAR NK Cells for the Treatment of Refractory Antisynthetase Antibody Syndrome and Rheumatoid Arthritis
Conditions: Antisynthetase Syndrome · Rheumatoid Arthritis·Matched via name phrase
Observational and natural-history studies
6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05984394·RECRUITING·Evaluation of Antigen-specific T Cells in Patients With Antisynthetase Syndrome and Interstitial Lung Disease
Conditions: Antisynthetase Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Antisynthetase syndrome" OR "AS syndrome" OR "Anti-ARS syndrome" OR "Anti-Jo1 syndrome" OR "Anti-aminoacyl-tRNA synthetase syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Antisynthetase syndrome" OR "AS syndrome" OR "Anti-ARS syndrome" OR "Anti-Jo1 syndrome" OR "Anti-aminoacyl-tRNA synthetase syndrome"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 7 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ASS; ASyS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:20:28.792Z