ORPHA:444092
Autoimmune interstitial lung disease-arthritis syndrome
Also known as: COPA syndrome
Publications
315
85.4th percentile
Trials
1
Interventional, condition-specific
Researchers
1,103
Distinct authors in sample
Gene link
COPA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (2)
COPA Syndrome · autoinflammation and autoimmunity, systemic, with immune dysregulation
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — COPA
- LiteraturePresent
315 matched papers (312 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
1 matched on ClinicalTrials.gov
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?
Yes — we know a specific gene responsible (COPA).
GenCC classification: Strong.
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?
315
315 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
315 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).
312 in the last 10 years · medium confidence · 85.4th percentile (publications denominator)
Phrase hits: 315 · MeSH hits: 0
Who's working on it?
1,103
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.
- 01Frémond ML15 papers · 2026
Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.
Papers in Europe PMC - 02Shum AK13 papers · 2026
Department of Medicine, Division of Pulmonary and Critical Care, University of California San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 03Griese M10 papers · 2026
Dr. von Hauner Children´s Hospital, University of Munich, German Center for Lung Research (DZL), Lindwurmstraße 4, 80337, Munich, Germany. Matthias.griese@med.uni-muenchen.de.
Papers in Europe PMC - 04Nathan N10 papers · 2026
Peditric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, INSERM UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University and APHP, 75012 Paris, France.
Papers in Europe PMC - 05Law CS8 papers · 2025
Dept of Medicine, Division of Pulmonary and Critical Care, University of California San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 06Taguchi T8 papers · 2026
Laboratory of Organelle Pathophysiology, Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan. tom_taguchi@tohoku.ac.jp.
Papers in Europe PMC - 07Wang Y8 papers · 2025
Department of Respiratory Medicine, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Papers in Europe PMC - 08Belot A7 papers · 2026
CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France; National Reference Center for Rheumatic, Systemic Autoimmune Diseases and Interferonopathies in Children (RAISE), Hospices Civils of Lyon, Lyon, France; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
Papers in Europe PMC - 09Crow YJ7 papers · 2026
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.
Papers in Europe PMC - 10Deng Z7 papers · 2025
Dept of Medicine, Division of Pulmonary and Critical Care, University of California San Francisco, San Francisco, CA, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Autoimmune interstitial lung disease-arthritis syndrome" OR "COPA syndrome" OR "autoinflammation and autoimmunity, systemic, with immune dysregulation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune interstitial lung disease-arthritis syndrome" OR "COPA syndrome" OR "autoinflammation and autoimmunity, systemic, with immune dysregulation" OR "COPA"
Recall-expansion terms: COPA
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (315) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T16:28:58.329Z