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ORPHA:275766

Idiopathic pulmonary arterial hypertension

medium confidenceSubtype of disorder

Also known as: IPAH · Primary pulmonary arterial hypertension

Publications

39,483

98.8th percentile

Trials

35

Interventional, condition-specific

Researchers

1,341

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is and potentially fatal and not associated with an underlying condition or family history of PAH.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

idiopathic pulmonary arterial hypertension · primary pulmonary arterial hypertension · primary pulmonary hypertension

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.”

5/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    39,483 matched papers (23,896 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Pulmonary arterial hypertension; Elevated pulmonary artery pressure; Increased pulmonary vascular resistance) Source

  4. Animal modelPresent

    12 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    15 FDA designations (15 FDA orphan-indication approvals) — e.g. Imatinib Source

  6. Interventional trialPresent

    35 matched on ClinicalTrials.gov (3 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)

18

Associated phenotypes · MONDO:0017147

  • Pulmonary arterial hypertension
  • Elevated pulmonary artery pressure
  • Increased pulmonary vascular resistance
  • Abnormal jugular vein morphology
  • Chest pain

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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)

15

Designations · 15 with FDA orphan-indication approval

  • FDA ImatinibPULMONARY ARTERIAL HYPERTENSION · 2020-12-21 · Not FDA Approved for Orphan Indication
  • FDA imatinib mesylatePULMONARY ARTERIAL HYPERTENSION · 2020-06-15 · Not FDA Approved for Orphan Indication
  • FDA sodium valproatePULMONARY ARTERIAL HYPERTENSION · 2020-03-09 · Not FDA Approved for Orphan Indication
  • FDA sotaterceptPULMONARY ARTERIAL HYPERTENSION · 2019-09-05 · Not FDA Approved for Orphan Indication
  • FDA ZamicastatPulmonary Hypertension PULMONARY ARTERIAL HYPERTENSION · 2019-07-15 · Not FDA Approved for Orphan Indication
  • FDA vardenafilPULMONARY ARTERIAL HYPERTENSION · 2019-04-22 · Not FDA Approved for Orphan Indication
  • FDA trimetazidinePULMONARY ARTERIAL HYPERTENSION · 2018-08-07 · Not FDA Approved for Orphan Indication
  • FDA N-(tert-butylcarbamoyl)-5-cyano-2-((4'-(difluoromethoxy)-[1,1'-biphenyl]-3-yl)oxy)benzenesulfonamidePULMONARY ARTERIAL HYPERTENSION · 2018-03-01 · 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

39,483

39,483 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.

39,483 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).

23,896 in the last 10 years · medium confidence · 98.8th percentile (publications denominator)

Phrase hits: 39,483 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,341

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
    Li X9 papers · 2026

    The Center for Vascular Disease and Translational Medicine, the Third Xiangya Hospital (Z.P., Yapei Li., Y.W., B.P., Z.Z., C.Q., Xiaohui Li, A.F.C.), Central South University, Changsha, China.

    Papers in Europe PMC
  2. 02
    Zhang Y9 papers · 2026

    Division of Cardiothoracic Surgery, University of California San Diego, La Jolla, CA, USA.

    Papers in Europe PMC
  3. 03
    Wang Y8 papers · 2026

    Department of Radiology, Guangzhou Hospital of Integrated Traditional Chinese and Western Medicine, 510800, China.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2026

    Guangdong Jiangmen Chinese Medicine College, Jiangmen, PR China.

    Papers in Europe PMC
  5. 05
    Chen Y6 papers · 2026

    State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangdong Key Laboratory of Vascular Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital (F.W., Z.L., W.L., H.L., H.F., S.L., C.Z., Y.Z., S.M., C.W., Z.Z., W.F., J.Z., Q.Y., M.D., W.K., A.L., J.L., X.L., X.W., N.L., Y.C., K.Y., J.W.), Guangzhou Medical University, China.

    Papers in Europe PMC
  6. 06
    He J6 papers · 2026

    Medical Affairs Department, Gansu Provincial Hospital, Lanzhou, Gansu, China.

    Papers in Europe PMC
  7. 07
    Wang J (王健)6 papers · 2026

    Shenzhen Key Laboratory of Microbial Genetic Engineering, Vascular Disease Research Center, College of Life Sciences and Oceanography, Guangdong Provincial Key Laboratory of Regional Immunity and Disease, Shenzhen University, China.

    Papers in Europe PMC
  8. 08
    Wang L6 papers · 2026

    Department of Pulmonary Circulation, Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China.

    Papers in Europe PMC
  9. 09
    Wang X6 papers · 2026

    Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Wu Y6 papers · 2026

    The Center for Vascular Disease and Translational Medicine, the Third Xiangya Hospital (Z.P., Yapei Li., Y.W., B.P., Z.Z., C.Q., Xiaohui Li, A.F.C.), Central South University, Changsha, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

35

interventional trials for this specific condition

35 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 503 trials are registered for pulmonary arterial hypertension, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

35 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.3th percentile).

medium confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: pulmonary arterial hypertension

503

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

12 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 85 · after dedupe 85 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 84 · 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 (84)

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 arterial hypertension — 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 arterial hypertension" OR "Primary pulmonary arterial hypertension" OR "primary pulmonary hypertension"

Run this search on Europe PMC

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

"Idiopathic pulmonary arterial hypertension" OR "Primary pulmonary arterial hypertension" OR "primary pulmonary hypertension"

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: 35 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pulmonary arterial hypertension"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IPAH

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 2026-07-27T11:38:06.270Z