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ORPHA:70591

Chronic thromboembolic pulmonary hypertension

low confidenceDisorder

Also known as: CTEPH

Publications

10,775

Trials

65

Interventional, condition-specific

Researchers

1,370

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 µm. The consequence is an increase in pulmonary vascular resistance (PVR) and right heart failure.

How rare: How common this is has not been clearly measured.

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.”

4/6 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

    10,775 matched papers (7,408 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Congestive heart failure; Pulmonary arterial hypertension; Increased pulmonary vascular resistance) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    3 FDA · 2 EMA designations (2 FDA orphan-indication approvals) — e.g. selexipag Source

  6. Interventional trialPresent

    65 matched on ClinicalTrials.gov (8 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)

37

Associated phenotypes · MONDO:0013024

  • Congestive heart failure
  • Pulmonary arterial hypertension
  • Increased pulmonary vascular resistance
  • Palpitations
  • Pulmonary embolism

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

5

Designations · 2 with FDA orphan-indication approval

  • FDA selexipagChronic thromboembolic pulmonary hypertension · 2018-10-02 · Not FDA Approved for Orphan Indication
  • FDA macitentanChronic thromboembolic pulmonary hypertension · 2017-06-15 · Not FDA Approved for Orphan Indication
  • EMA treprostinil sodium (Trepulmix)Treatment of chronic thromboembolic pulmonary hypertension · 08/02/2013 · PositiveEMA designation
  • FDA riociguat (Adempas)Chronic thromboembolic pulmonary hypertension · 2013-09-19
  • EMA macitentanTreatment of chronic thromboembolic pulmonary hypertension · 10/12/2021 · WithdrawnEMA designation

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?

10,775

10,775 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.

10,775 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).

7,408 in the last 10 years · low confidence

Phrase hits: 10,775 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,370

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
    Zhang Y9 papers · 2026

    National Center for Respiratory Medicine, State Key Laboratory of Respiratory Health and Multimorbidity, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine, Chinese Academy of Medical Sciences, Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine (J.L., R.M., M.L., H.T., X.L., L.S., Z. Zhang, S.Z., Yunxia Zhang, Yu Zhang, Q.G., D.W., W.X., Q.H., Z. Zhai), China-Japan Friendship Hospital, Beijing.

    Papers in Europe PMC
  2. 02
    Li H8 papers · 2026

    Department of Ultrasound, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Wang L8 papers · 2026

    Department of Nuclear Medicine, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: leiwangfw@126.com.

    Papers in Europe PMC
  4. 04
    Liu J7 papers · 2026

    National Center for Respiratory Medicine, State Key Laboratory of Respiratory Health and Multimorbidity, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine, Chinese Academy of Medical Sciences, Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine (J.L., R.M., M.L., H.T., X.L., L.S., Z. Zhang, S.Z., Yunxia Zhang, Yu Zhang, Q.G., D.W., W.X., Q.H., Z. Zhai), China-Japan Friendship Hospital, Beijing.

    Papers in Europe PMC
  5. 05
    Wang J7 papers · 2026

    The Department of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China; Capital Medical University, Beijing, 100048, China.

    Papers in Europe PMC
  6. 06
    Zhang S7 papers · 2026

    National Center for Respiratory Medicine, State Key Laboratory of Respiratory Health and Multimorbidity, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine, Chinese Academy of Medical Sciences, Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine (J.L., R.M., M.L., H.T., X.L., L.S., Z. Zhang, S.Z., Yunxia Zhang, Yu Zhang, Q.G., D.W., W.X., Q.H., Z. Zhai), China-Japan Friendship Hospital, Beijing.

    Papers in Europe PMC
  7. 07
    Li J6 papers · 2026

    Department of Ultrasonography, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.

    Papers in Europe PMC
  8. 08
    Li X6 papers · 2026

    National Center for Respiratory Medicine, State Key Laboratory of Respiratory Health and Multimorbidity, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine, Chinese Academy of Medical Sciences, Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine (J.L., R.M., M.L., H.T., X.L., L.S., Z. Zhang, S.Z., Yunxia Zhang, Yu Zhang, Q.G., D.W., W.X., Q.H., Z. Zhai), China-Japan Friendship Hospital, Beijing.

    Papers in Europe PMC
  9. 09
    Tamura Y6 papers · 2026

    Pulmonary Hypertension Center, International University of Health and Welfare Mita Hospital, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Barberà JA5 papers · 2026

    Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, 08036, Spain; Faculty of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, 08036, Spain; Biomedical Research Networking Centre on Respiratory Diseases (CIBERES), Madrid, Spain; Department of Pulmonary Medicine, ICR, Hospital Clínic Barcelona, Barcelona, 08036, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

65

interventional trials for this specific condition

65 interventional trials matched this specific condition name; 8 currently recruiting in our sample. 601 trials are registered for pulmonary hypertension, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

65 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.8th percentile).

low confidence · 97.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: pulmonary hypertension

601

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

55 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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · 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 (21)

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 Chronic thromboembolic pulmonary 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.

"Chronic thromboembolic pulmonary hypertension" OR "CTEPH"

Run this search on Europe PMC

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

"Chronic thromboembolic pulmonary hypertension" OR "CTEPH"

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: 65 interventional · 55 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pulmonary hypertension"

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 (10775) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:36:31.593Z