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Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
Biomarker and diagnostic research for heritable pulmonary arterial hypertension has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
99 clinical trials registered, 52 recruiting. Interventions under study include drug therapy, other interventions, medical devices, and biologic therapy. Pipeline includes 8 PHASE4, 11 PHASE3, 17 PHASE2. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT05464095](https://clinicaltrials.gov/study/NCT05464095) |
Data assembled from 4 of 12 sources · Last updated Nov 5, 2026, 2:03 AM UTC
Program availability and eligibility requirements are set by each foundation. Contact them directly to learn more about your options.
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European rare disease database
Genetic and Rare Diseases Info Center
The MObile Health InterVEntion in Pulmonary Arterial Hypertension (MOVE PAH) Study |
NA |
Vanderbilt University Medical Center |
RECRUITING |
[NCT04555161](https://clinicaltrials.gov/study/NCT04555161) | Treatment of Pulmonary Arterial Hypertension Using the Aria CV Pulmonary Hypertension System | NA | Aria CV, Inc | RECRUITING |
[NCT05462574](https://clinicaltrials.gov/study/NCT05462574) | Right Ventricle Lipid in Pulmonary Arterial Hypertension (PAH) | — | Vanderbilt University Medical Center | RECRUITING |
[NCT04778046](https://clinicaltrials.gov/study/NCT04778046) | Pulmonary Hypertension SOLAR | PHASE2 | Bastiaan Driehuys | RECRUITING |
[NCT07365332](https://clinicaltrials.gov/study/NCT07365332) | An Adaptive Program of IKT-001 in Pulmonary Arterial Hypertension (PAH) | PHASE3 | Inhibikase Therapeutics | RECRUITING |
42 publications have been identified in PubMed for heritable pulmonary arterial hypertension. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 33% |
Disease patterns and progression | 8 | 19% |
Laboratory research | 6 | 14% |
Research summaries | 5 | 12% |
Testing and diagnosis research | 4 | 10% |
Clinical study results | 3 | 7% |
Other research | 1 | 2% |
New treatment approaches | 1 | 2% |
Datar SA (2026). [PMID: 41676498](https://pubmed.ncbi.nlm.nih.gov/41676498/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Shaukat M (2026). [PMID: 41611798](https://pubmed.ncbi.nlm.nih.gov/41611798/). *Sci Rep*. [Review / Meta-Analysis]
Rodriguez Ogando A (2026). [PMID: 40616677](https://pubmed.ncbi.nlm.nih.gov/40616677/). *Pediatr Cardiol*. [Epidemiology / Natural History]
Fernandez Vallone V (2026). [PMID: 41406515](https://pubmed.ncbi.nlm.nih.gov/41406515/). *Stem Cell Res*. [Basic Science / Preclinical]
Laconi A (2026). [PMID: 41669318](https://pubmed.ncbi.nlm.nih.gov/41669318/). *Eur Heart J Case Rep*. [Case Report / Case Series]
Mathavan A (2026). [PMID: 41795626](https://pubmed.ncbi.nlm.nih.gov/41795626/). *Am J Med Genet A*. [Case Report / Case Series]
Takatsuki S (2026). [PMID: 41925853](https://pubmed.ncbi.nlm.nih.gov/41925853/). *Pediatr Cardiol*. [Diagnostic / Biomarker]
Grynblat J (2026). [PMID: 42114419](https://pubmed.ncbi.nlm.nih.gov/42114419/). *Respir Med Res*. [Epidemiology / Natural History]
Berkane AW (2026). [PMID: 42001268](https://pubmed.ncbi.nlm.nih.gov/42001268/). *Ann Saudi Med*. [Epidemiology / Natural History]
Schneijdenberg JW (2026). [PMID: 42146787](https://pubmed.ncbi.nlm.nih.gov/42146787/). *Pulm Circ*. [Case Report / Case Series]
AI-curated news mentioning heritable pulmonary arterial hypertension
Updated Oct 19, 2026
A study reports sustained improvement in patients with systemic lupus erythematosus-associated pulmonary arterial hypertension following CD19 CAR T-cell therapy over one year. This research highlights the potential of CAR T-cell therapy in treating complex rare diseases.
Recent research highlights the potential for partial echocardiographic remission in patients with pulmonary arterial hypertension following treatment with sotatercept. This finding suggests an expansion of treatment goals beyond symptom management.
A recent EUSTAR analysis investigates treatment strategies and outcomes for systemic sclerosis-associated pulmonary arterial hypertension, focusing on different haemodynamic thresholds and risk stratification. This study provides insights that could inform clinical decision-making in managing this complex condition.
A recent Lancet study shows that ralinepag reduced clinical worsening in pulmonary arterial hypertension (PAH) by 55%. Funded by United Therapeutics, the trial highlighted a higher rate of treatment discontinuations due to adverse events compared to placebo.