RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2032

Idiopathic pulmonary fibrosis

medium confidenceDisorder

Also known as: IPF

Publications

43,024

99.1th percentile

Trials

396

Interventional, condition-specific

Researchers

1,327

Distinct authors in sample

Gene link

ELMOD2

No Known Disease Relationship

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

An interstitial lung disease with a poor prognosis, that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPartial

    No Known Disease Relationship — ELMOD2

  2. LiteraturePresent

    43,024 matched papers (31,205 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Pulmonary fibrosis; Exertional dyspnea; Fatigue) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    15 FDA · 5 EMA designations (15 FDA orphan-indication approvals) — e.g. axatilimab Source

  6. Interventional trialPresent

    396 matched on ClinicalTrials.gov (69 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)

20

Associated phenotypes · MONDO:0800504

  • Pulmonary fibrosis
  • Exertional dyspnea
  • Fatigue
  • Honeycomb lung
  • Reduced forced vital capacity

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

30

Designations · 15 with FDA orphan-indication approval

  • FDA axatilimabIdiopathic Pulmonary Fibrosis · 2021-04-07 · Not FDA Approved for Orphan Indication
  • FDA lithium carbonateIdiopathic Pulmonary Fibrosis · 2021-03-29 · Not FDA Approved for Orphan Indication
  • FDA TreprostinilIdiopathic Pulmonary Fibrosis · 2020-12-08 · Not FDA Approved for Orphan Indication
  • FDA saracatinibIdiopathic Pulmonary Fibrosis · 2019-03-11 · Not FDA Approved for Orphan Indication
  • FDA 5-(4-((2S,5S)-5-(4-chlorobenzyl)-2-methylmorpholino)piperidin-1-yl)-1H-1,2,4-triazol-3-amineIdiopathic Pulmonary Fibrosis · 2019-02-25 · Not FDA Approved for Orphan Indication
  • FDA nitric oxideIdiopathic Pulmonary Fibrosis · 2017-01-31 · Not FDA Approved for Orphan Indication
  • FDA carbon monoxideIPF Idiopathic Pulmonary Fibrosis · 2016-08-16 · Not FDA Approved for Orphan Indication
  • FDA lebrikizumabIdiopathic Pulmonary Fibrosis · 2015-03-09 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

6 associated chemicals · 243 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Arsenic Trioxide · therapeutic
  • Dinoprostone · therapeutic
  • Panobinostat · therapeutic
  • pirfenidone · therapeutic
  • Bleomycin · marker/mechanism
  • sodium arsenite · marker/mechanism

Pathways: EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Antifolate resistance; RNA degradation; MAPK signaling pathway; Cytokine-cytokine receptor interaction; Chemokine signaling pathway; NF-kappa B signaling pathway

MyDisease.info · MONDO:0800504

Literature

Is anyone studying this?

43,024

43,024 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.

43,024 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).

31,205 in the last 10 years · medium confidence · 99.1th percentile (publications denominator)

Phrase hits: 42,852 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,327

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.

  1. 01
    Wang Y10 papers · 2026

    Clinical Center for Interstitial Lung Diseases, Department of Occupational Medicine and Toxicology, Beijing Institute of Respiratory Medicine, Beijing Chaoyang Hospital, Capital Medical University, No.8 Worker's Stadium, Chaoyang District, Beijing, 100020, China.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2026

    Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu 610041, China.

    Papers in Europe PMC
  3. 03
    Zhang C6 papers · 2026

    Pulmonary and Critical Care Medicine, Shandong Second Provincial General Hospital, Jinan, China.

    Papers in Europe PMC
  4. 04
    Zhang Y6 papers · 2026

    Department of Pharmaceutics, School of Pharmacy, Shenyang Pharmaceutical University, Shenyang 110016, Liaoning, China. Electronic address: pharmzy@163.com.

    Papers in Europe PMC
  5. 05
    Li J5 papers · 2026

    Department of Thoracic Surgery, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.

    Papers in Europe PMC
  6. 06
    Yang J5 papers · 2026

    Boehringer Ingelheim Pharmaceuticals Inc. Ridgefield, Connecticut.

    Papers in Europe PMC
  7. 07
    Zhang X5 papers · 2026

    Department of General Practice, The First Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC
  8. 08
    Chen Y4 papers · 2026

    Department of Thoracic Surgery, Shengjing Hospital of China Medical University, Shenyang, 110004, PR China.

    Papers in Europe PMC
  9. 09
    Lee JH4 papers · 2026

    Division of Pulmonology, Department of Internal Medicine, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea. anilleus@naver.com.

    Papers in Europe PMC
  10. 10
    Li B4 papers · 2026

    Department of Geriatrics, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China. libin@cdutcm.edu.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

396

interventional trials for this specific condition

396 interventional trials matched this specific condition name; 69 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

396 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.7th percentile).

medium confidence · 99.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

396 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

158 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

Open the complete matched search on ClinicalTrials.gov

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 81 · after dedupe 81 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 81 · dropped 0 · fetched 2026-07-29

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 (81)

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 Idiopathic pulmonary fibrosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Idiopathic pulmonary fibrosis") OR ("ELMOD2" OR "ELMOD2 syndrome" OR "ELMOD2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Idiopathic pulmonary fibrosis"

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: 396 interventional · 158 observational · 3 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: IPF

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:49:46.406Z