ORPHA:444092
Autoimmune interstitial lung disease-arthritis syndrome
Also known as: COPA syndrome
Publications
5,771
Trials
0
Interventional, condition-specific
Researchers
1,103
Distinct authors in sample
Gene link
COPA
Strong
Readiness
4/6
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Strong — COPA
- LiteraturePresent
5,771 matched papers (3,710 in last 10 years) Source
- Phenotype characterisedPresent
44 HPO annotations (e.g. Vasculitis; Cerebral hemorrhage; Glomerulonephritis) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
44
Associated phenotypes · MONDO:0014629
- Vasculitis
- Cerebral hemorrhage
- Glomerulonephritis
- Hematochezia
- Decreased hemoglobin concentration
Showing 5 of 44 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Copatm1.1Shum/Copa+ [background:] B6(CBA)-Copatm1.1Shum·MGI:7336761·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
5,771
5,771 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=3967) is 59.
5,771 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
3,710 in the last 10 years · low confidence
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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 60 · after dedupe 57 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 57 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (57)
- ctis·2025-521740-38-00·Authorised·A Phase I/II, randomized, placebo-controlled, multi-arm, dose-finding study to evaluate the
safety, efficacy and immunogenicity of an Acne mRNA vaccine candidate in adults with moderate to severe acne 18 to 45 years of age
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525620-23-00·Authorised·Local and systemic immune modulation by Rilvegostomig (AZD2936) in the treatment of advanced gastric cancer (RILVE Project)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526078-18-00·Authorised·A single center, randomized, controlled trial in healthy volunteers using dermal open flow microperfusion to assess cutaneous BE of two doxepin hydrochloride creams
skipped — LLM skipped (--skip-llm)
- ctis·2025-523617-29-01·Authorised·Tolerability and efficacy of treating locally advanced Resectable Oral Cancer with neoadjuvant INtratumoral anti-CTLA4 ImmunoTherapy combined with systemic anti-PD-1 (ROCinIT).
skipped — LLM skipped (--skip-llm)
- ctis·2024-519985-35-00·Authorised·Obinutuzumab for systemic lupus erythematosus pure membranous nephropathy: a phase II trial
(OBLUMEN)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524374-42-00·Authorised·Immunogenicity and safety of two respiratory syncytial virus vaccine strategies in lung and allogeneic haematopoietic stem cell transplant recipients: A phase 2 trial
RSVaxID
skipped — LLM skipped (--skip-llm)
- ctis·2025-524855-30-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Parallel Study to Evaluate the Efficacy and Safety of Enpatoran in Participants with Active Cutaneous Manifestations of Lupus Erythematosus With or Without Systemic Disease Receiving Standard of Care
skipped — LLM skipped (--skip-llm)
- ctis·2025-523288-39-00·Authorised·A Phase 2 Randomized, Double-blind, Placebo-Controlled Study to Assess the Safety and Efficacy of MTX-474 in the Treatment of Participants with Diffuse Cutaneous Systemic Sclerosis (dcSSc)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525009-18-00·Authorised·A Randomized, Double-Blind, Phase 3 Study of Chemotherapy With or Without INCB161734 in Previously Untreated, KRAS G12D-Mutated Metastatic Pancreatic Ductal Adenocarcinoma (DAWN-303)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526113-28-00·Authorised·Prospective, multicenter, randomized study on combined LT4 + LT3 therapy versus LT4 in the control of TSH in patients with advanced thyroid cancer treated with tyrosine kinase inhibitors.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524795-35-00·Authorised·Phase IV study evaluating the efficacy and safety of the venetoclax + rituximab (VR) regimen in patients with relapsed chronic lymphocytic leukemia in Polish clinical practice
skipped — LLM skipped (--skip-llm)
- ctis·2026-526434-21-00·Authorised·Systemic Bioavailability and Bioequivalence of Topical Diclofenac Fysioline 23.2 mg/g gel compared with Diclofenac Diethylamine - Voltaren Forte 2.32% gel
skipped — LLM skipped (--skip-llm)
- ctis·2025-524337-11-00·Authorised·A Phase 3, Randomized, Open-label, Multicenter Study to Compare the Efficacy and Safety of BMS-986353, CD19-targeted NEX-T CAR T Cells, Versus Standard of Care in Participants with Active Systemic Sclerosis (Breakfree-SSc)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522294-11-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study of Nemolizumab in Adult Patients with Systemic Sclerosis, including a 52-Week Main Treatment Period and a 156-Week Extension Treatment Period
skipped — LLM skipped (--skip-llm)
- ctis·2026-525540-15-00·Authorised·Evaluation of the Non-Inferiority of Topical Chloramphenicol Versus Topical Ciprofloxacin in the Resolution of Otorrhea in Adults With Chronic Suppurative Otitis Media (CSOM) – Protocol OMCOS
skipped — LLM skipped (--skip-llm)
- ctis·2026-525191-26-00·Authorised·Efficacy of top-down therapy with mirikizumab versus standard of care with azathioprine in patients with newly diagnosed, moderate-to-severe Crohn’s disease: A 52-week, multicenter, open-label, randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523593-16-00·Authorised·First adjuvant trial in locally resected aggressive pancreatic neuroendocrine tumors: a randomized phase III investigating the efficacy of systemic chemotherapy (ADJUPANET)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523432-39-01·Authorised·A Phase 1/2, Open-label Study of VS-7375, a KRAS G12D (ON/OFF) Inhibitor, as Monotherapy and in Combination, in Patients with Advanced KRAS G12D-Mutant Solid Tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-523670-17-00·Authorised, recruiting·Multinational, Interventional, 52-week, Open-label, Single-arm
Study to Evaluate the Treatment Outcomes of Anifrolumab 120 mg
Subcutaneous Once Weekly in Immunosuppressant-naïve and
Biologic-naïve Systemic Lupus Erythematosus (SUNFLOWER)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523426-40-00·Authorised·Allergen extract of Lepidoglyphus destructor. Study of the sensitivity and specificity of the diagnostic preparation in prick tests
skipped — LLM skipped (--skip-llm)
- ctis·2025-523653-34-00·Authorised·Sublingual Birch Immunotherapy for Pollen-associated Food Allergy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-522956-25-00·Authorised·COPE-CP: The effect of Celecoxib on pain, quality of life, use of opioids, and inflammation in patients suffering from chronic pancreatitis: a multicenter randomized placebo-controlled, double-blinded clinical trial
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Autoimmune interstitial lung disease-arthritis syndrome — check Associations / patient organisations on that page.
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") OR ("COPA" OR "COPA-related")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"
Study-type breakdown: 0 interventional · 0 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
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 (5771) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:28:58.329Z