Chronic thromboembolic pulmonary hypertension
diseaseOn this page
Also known as CTEPH
Summary
Chronic thromboembolic pulmonary hypertension (MONDO:0013024) is a disease and 100 clinical trials. Top therapeutic interventions include riociguat, macitentan, and warfarin. A subtype of pulmonary hypertension — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 37
- Clinical trials: 100
Clinical features
Epidemiology
Prevalence records
3 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.2 | Europe | Validated |
| Annual incidence | 1-9 / 100 000 | 5.1 | United States | Validated |
| Annual incidence | 1-9 / 100 000 | 1.9 | Japan | Validated |
Signs & symptoms
Clinical features (HPO)
37 HPO clinical features (Orphanet curated; top 37 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001635 | Congestive heart failure | Very frequent (80-99%) |
| HP:0002092 | Pulmonary arterial hypertension | Very frequent (80-99%) |
| HP:0005317 | Increased pulmonary vascular resistance | Very frequent (80-99%) |
| HP:0001962 | Palpitations | Frequent (30-79%) |
| HP:0002204 | Pulmonary embolism | Frequent (30-79%) |
| HP:0002625 | Deep venous thrombosis | Frequent (30-79%) |
| HP:0002792 | Reduced vital capacity | Frequent (30-79%) |
| HP:0002875 | Exertional dyspnea | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0030877 | Reduced FEV1/FVC ratio | Frequent (30-79%) |
| HP:0000716 | Depression | Occasional (5-29%) |
| HP:0000969 | Edema | Occasional (5-29%) |
| HP:0001279 | Syncope | Occasional (5-29%) |
| HP:0001513 | Obesity | Occasional (5-29%) |
| HP:0001693 | Cardiac shunt | Occasional (5-29%) |
| HP:0001708 | Right ventricular failure | Occasional (5-29%) |
| HP:0001871 | Abnormality of blood and blood-forming tissues | Occasional (5-29%) |
| HP:0002960 | Autoimmunity | Occasional (5-29%) |
| HP:0003613 | Antiphospholipid antibody positivity | Occasional (5-29%) |
| HP:0004831 | Recurrent thromboembolism | Occasional (5-29%) |
| HP:0005133 | Right ventricular dilatation | Occasional (5-29%) |
| HP:0005135 | Abnormal T-wave | Occasional (5-29%) |
| HP:0005162 | Abnormal left ventricular function | Occasional (5-29%) |
| HP:0010536 | Central sleep apnea | Occasional (5-29%) |
| HP:0011227 | Elevated circulating C-reactive protein concentration | Occasional (5-29%) |
| HP:0011712 | Right bundle branch block | Occasional (5-29%) |
| HP:0011901 | Dysfibrinogenemia | Occasional (5-29%) |
| HP:0012146 | Abnormality of von Willebrand factor | Occasional (5-29%) |
| HP:0012184 | Increased HDL cholesterol concentration | Occasional (5-29%) |
| HP:0012417 | Hypocapnia | Occasional (5-29%) |
| HP:0025343 | Lupus anticoagulant | Occasional (5-29%) |
| HP:0030718 | Right atrial enlargement | Occasional (5-29%) |
| HP:0030977 | Increased factor VIII activity | Occasional (5-29%) |
| HP:0002037 | Inflammation of the large intestine | Very rare (<1-4%) |
| HP:0002664 | Neoplasm | Very rare (<1-4%) |
| HP:0002754 | Osteomyelitis | Very rare (<1-4%) |
| HP:0005547 | Myeloproliferative disorder | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | chronic thromboembolic pulmonary hypertension |
| Mondo ID | MONDO:0013024 |
| OMIM | 612862 |
| Orphanet | 70591 |
| ICD-10-CM | I27.24 |
| ICD-11 | 1567490107 |
| SNOMED CT | 233947005 |
| UMLS | C2748504 |
| MedGen | 440560 |
| GARD | 0013124 |
| MedDRA | 10068739 |
| Is cancer (heuristic) | no |
Also known as: CTEPH
Disease family
This is a subtype of pulmonary hypertension. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › hypertensive disorder › pulmonary hypertension › chronic thromboembolic pulmonary hypertension
Related subtypes (5): Braddock syndrome, hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome, pulmonary arterial hypertension, pulmonary hypertension owing to lung disease and/or hypoxia, pulmonary hypertension, neonatal
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 100.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 81 |
| PHASE3 | 8 |
| PHASE2 | 8 |
| PHASE4 | 2 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06715280 | PHASE4 | RECRUITING | Switching of Sildenafil to Riociguat in CTEPH Patients |
| NCT04954742 | PHASE4 | TERMINATED | Effects of Riociguat on RIght VEntricular Size and Function in PAH and CTEPH |
| NCT05140525 | PHASE3 | RECRUITING | Effects of Combination Medical Therapy Followed by BPA on Right Ventricular-PA Coupling and Hemodynamics in CTEPH |
| NCT06922240 | PHASE3 | RECRUITING | Riociguat-Discontinue Effects on Right HEART in CTEPH (RED-HEART) |
| NCT00313222 | PHASE3 | COMPLETED | Bosentan Effects in Inoperable Forms of Chronic Thromboembolic Pulmonary Hypertension |
| NCT03422328 | PHASE3 | COMPLETED | A Clinical Study to Investigate the Long-term Safety of the Drug Macitentan in Patients With Pulmonary Hypertension Who Were Previously Treated With Macitentan in Clinical Studies. |
| NCT03689244 | PHASE3 | TERMINATED | A Study to Find Out if Selexipag is Effective and Safe in Patients With Chronic Thromboembolic Pulmonary Hypertension When the Disease is Inoperable or Persistent/Recurrent After Surgery and/or Interventional Treatment |
| NCT03809650 | PHASE3 | TERMINATED | A Clinical Study to Find Out if Macitentan is Effective and Safe in Japanese Patients With Chronic Thromboembolic Pulmonary Hypertension (CTEPH). |
| NCT04271475 | PHASE3 | TERMINATED | A Study to Evaluate Efficacy and Safety of Macitentan 75 mg in Inoperable or Persistent/Recurrent Chronic Thromboembolic Pulmonary Hypertension |
| NCT04730037 | PHASE3 | COMPLETED | Clinical Trial to Investigate Safety and Efficacy of Edoxaban in Patients With CTEPH (KABUKI) |
| NCT06209710 | PHASE2/PHASE3 | UNKNOWN | Balloon Pulmonary Angioplasty vs. Combined Approach With Pulmonary Artery Denervation in CTEPH: Effectiveness Comparison |
| NCT06038630 | PHASE2 | RECRUITING | 129Xe MRI Cardiopulmonary |
| NCT02021292 | PHASE2 | COMPLETED | Clinical Study to Assess the Efficacy, Safety and Tolerability of Macitentan in Subjects With Inoperable Chronic Thromboembolic Pulmonary Hypertension |
| NCT02060721 | PHASE2 | COMPLETED | Clinical Study to Assess the Safety, Tolerability and Efficacy of Macitentan in Subjects With Inoperable Chronic Thromboembolic Pulmonary Hypertension |
| NCT02094001 | PHASE2 | COMPLETED | Pilot Study to Evaluate Right Ventricular Function With Riociguat in CTEPH |
| NCT02745106 | PHASE2 | UNKNOWN | Interventional Treatment of Residual Pulmonary Hypertension in Patients After Pulmonary Thromboendarterectomy |
| NCT03273257 | PHASE2 | TERMINATED | Riociguat in Patients With Operable CTEPH Prior to Pulmonary Endarterectomy (PEA Bridging Study) |
| NCT04207593 | PHASE2 | COMPLETED | The Effect of Oxygen Therapy on 6MWD in PAH and CTEPH Patients With Hypoxemia |
| NCT05179356 | PHASE2 | COMPLETED | Dapagliflozin in Pulmonary Arterial Hypertension |
| NCT02061787 | Not specified | RECRUITING | the Application of Cardiopulmonary Exercise Testing in Assessment Outcome of Patients With Pulmonary Hypertension |
| NCT03388476 | Not specified | ENROLLING_BY_INVITATION | Endtidal Carbon Dioxide for Earlier Detection of Pulmonary Hypertension |
| NCT03959748 | Not specified | RECRUITING | DataBase of pulmoNary hyPertesion in PoLish Population - BNP-PL |
| NCT04071327 | Not specified | RECRUITING | Pulmonary Hypertension Association Registry |
| NCT04206852 | Not specified | RECRUITING | Safety and Efficacy of Balloon Pulmonary Angioplasty in China |
| NCT04808596 | Not specified | RECRUITING | Pulmonary Hypertension Biorepository and Registry |
| NCT05110066 | Not specified | RECRUITING | BPA vs. PEA in CTEPH |
| NCT05311072 | Not specified | RECRUITING | Change-a Multi-center Chronic Thromboembolic Pulmonary Hypertension （CTEPH） Database in China |
| NCT05340023 | Not specified | RECRUITING | Proteomic Pattern Associated With the Diagnosis of Chronic Thromboembolic Pulmonary Hypertension |
| NCT05629052 | Not specified | ACTIVE_NOT_RECRUITING | TrEatment Approach in the Multimodal Era Registry |
| NCT05843500 | Not specified | RECRUITING | Chronic Thromboembolic Disease Registry |
| NCT06081881 | Not specified | RECRUITING | Chronic Thromboembolic Pulmonary Hypertension After Pulmonary Embolism |
| NCT06105242 | Not specified | RECRUITING | Biological Sex and CTEPH-related RV Dysfunction and Recovery (BIOSPHeRe) |
| NCT06286891 | Not specified | RECRUITING | Frailty, Physical Capacity and Lung Function in Postoperative Pulmonary Endarterectomy Patients |
| NCT06526468 | Not specified | RECRUITING | Chinese PE Multimodality Imaging Artificial Intelligence Study |
| NCT06973382 | Not specified | NOT_YET_RECRUITING | Effects of Pulmonary Rehabilitation on Quality of Life and Health in Pulmonary Arterial Hypertension Patients |
| NCT07172334 | Not specified | NOT_YET_RECRUITING | What is the Role of the Exposome in Pulmonary Hypertension |
| NCT07254078 | Not specified | RECRUITING | Registry of Patients With chrOnic thromboemboLic Pulmonary hypErTension |
| NCT07272798 | Not specified | RECRUITING | Cardiac Self-Efficacy in Patients With Chronic Thromboembolic Pulmonary Hypertension |
| NCT07299227 | Not specified | RECRUITING | Impact of BPA in CTEPH on Cardiac and Pulmonary Physiology Assessed by CMR-derived 4D Flow Haemodynamics |
| NCT07522203 | Not specified | RECRUITING | Arterial Wave Energy Flux and Multidimensional Recovery in Patients With Chronic Thromboembolic Pulmonary Hypertension Undergoing Balloon Pulmonary Angioplasty |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RIOCIGUAT | 4 | 7 |
| MACITENTAN | 4 | 6 |
| WARFARIN | 4 | 3 |
| BOSENTAN | 4 | 1 |
| EDOXABAN | 4 | 1 |
| SELEXIPAG | 4 | 1 |
| CETYLPYRIDINIUM CHLORIDE | 3 | 1 |
| CHEMBL4303203 | 0 | 1 |
| CHEMBL4643136 | 0 | 1 |
Related Atlas pages
- Drugs: Riociguat, Macitentan, Warfarin, Bosentan, Edoxaban, Selexipag, Cetylpyridinium Chloride