Registration Study for Rare Type of Pulmonary Hypertension

Study Overview
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Brief Summary
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The knowledge on the rare type of pulmonary hypertension which can not be explained by left heart disease, respiratory disease or congenital heart disease is very limited. Investigators aim to setup a national registration study for the rare type of pulmonary hypertension, to understand the natural history, survival, progression, genetic and environmental contributions to disease.

Detailed Description
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The main research contents of this registration study includes: Build a baseline database of the rare type of pulmonary hypertension. Collect general information, on-set symptoms and time, laboratory examination, imaging results, right heart catheterization and treatment information. Follow up recruited patients at regular intervals（6m 1y). Collect information on change in patients condition, laboratory test and treatment. Conduct genetic testing for gene mutation related or hereditary pulmonary hypertension. Link the clinical database to genetic database. Establish bio-bank for serum/plasma, urine, stool, tissues or cells. Establish prognostic study based on the clinical follow-up and genetic database. Draw diagnostic and treatment algorithm for the rare type of pulmonary hypertension. Controls subjects: blood sample and medical data collected once.

Official Title
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Registration Study for Rare Type of Pulmonary Hypertension

Conditions
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Pulmonary Hypertension

Intervention / Treatment
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* Other: laboratory biomarker analysis
* Genetic: Genetic analysis


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Participant is willing and able to give informed consent for participation in the study. Patients diagnosed as idiopathic pulmonary artery hypertension, hereditary pulmonary artery hypertension, hereditary hemorrhagic telangiectasia associated pulmonary artery hypertension, pulmonary veno-occlusive disease, pulmonary capillary hemangiomatosis associated pulmonary artery hypertension, cavernous transformation of portal vein associated pulmonary artery hypertension, special type of congenital heart disease associated pulmonary artery hypertension, chronic thromboembolism pulmonary hypertension. All patients should have undergone right heart catheterization, diagnosed according to the guideline. Exclusion Criteria: The participant may not enter the study if ANY of the following apply: Patients unwilling or unable to provide written consent for participation in the study. Not suffering from the rare type of pulmonary artery hypertension; Inclusion criteria-Controls Participant is willing and able to give informed consent for participation in the study. Self-reported to be healthy
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Idiopathic Pulmonary Artery Hypertension<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to idiopathic pulmonary artery hypertension (PAH). | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Hereditary PAH<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to hereditary PAH. | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Hereditary Hemorrhagic Telangiectasia<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to hereditary hemorrhagic telangiectasia associated PAH. | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Pulmonary Veno-Occlusive Disease (PVOD)<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to PVOD. | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Pulmonary Capillary Hemangiomatosis<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to pulmonary capillary hemangiomatosis associated PAH | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Cavernous Transformation of Portal Vein<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to cavernous transformation of portal vein associated PAH | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| CTEPH<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to chronic thromboembolism pulmonary hypertension (CTEPH). | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|
| Pulmonary Takaysu Arteritis<br>Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to Pulmonary Takaysu Arteritis. | Other: laboratory biomarker analysis<br>* Laboratory results will be analysed to identify disease related biomarkers.<br>Genetic: Genetic analysis<br>* Gene sequencing results will be analysed to identify disease related mutations.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Survival Rate of Participants |  | up to 10 years, at 12 months interval | 
| Lung transplantation |  | up to 10 years, at 12 months interval | 
| Change in New York Heart Association (NYHA) functional class |  | up to 10 years, at 3 months interval | 
| Change in 6 mint walk distance |  | up to 10 years, at 3 months interval | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genetic alteration in participants with rare type of PH | To identify the major genetic alterations in participants with rare type of PH | Baseline | 
| Change in NT-proBNP |  | up to 10 years, at 3 months interval | 
| Change in hemodynamics |  | up to 10 years, at 6 months interval | 
| Change in cardiac function | Measured by Cardiac MRI | up to 10 years, at 3-6 months interval | 
| Pulmonary endarterectomy (PEA) | e.g. operated versus non-operated | up to 10 years, at 6 months interval | 
| Balloon pulmonary angioplasty (BPA) | e.g. BPA versus non-BPA | up to 10 years, at 6 months interval | 
| Medical treatment | e.g. mono- versus combination therapy | up to 10 years, at 6 months interval | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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biomarker, registry, pulmonary hypertension, survival, whole genome sequencing