Pulmonary Hypertension
Conditions
Keywords
registry, pulmonary hypertension, survival, biomarker, whole genome sequencing
Brief summary
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
The main research contents of this registration study includes: 1. 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. 2. Follow up recruited patients at regular intervals（6m\ 1y). Collect information on change in patients condition, laboratory test and treatment. 3. Conduct genetic testing for gene mutation related or hereditary pulmonary hypertension. Link the clinical database to genetic database. 4. Establish bio-bank for serum/plasma, urine, stool, tissues or cells. 5. Establish prognostic study based on the clinical follow-up and genetic database. 6. Draw diagnostic and treatment algorithm for the rare type of pulmonary hypertension. Controls subjects: blood sample and medical data collected once.
Interventions
OTHERlaboratory biomarker analysis
Laboratory results will be analysed to identify disease related biomarkers.
GENETICGenetic analysis
Gene sequencing results will be analysed to identify disease related mutations.
Sponsors
Peking Union Medical College Hospital
China National Center for Cardiovascular Diseases
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | 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
| Measure | Time frame | Description |
|---|---|---|
| Pulmonary endarterectomy (PEA) | up to 10 years, at 6 months interval | e.g. operated versus non-operated |
| Genetic alteration in participants with rare type of PH | Baseline | To identify the major genetic alterations in participants with rare type of PH |
| Medical treatment | up to 10 years, at 6 months interval | e.g. mono- versus combination therapy |
| Balloon pulmonary angioplasty (BPA) | up to 10 years, at 6 months interval | e.g. BPA versus non-BPA |
| 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 | up to 10 years, at 3-6 months interval | Measured by Cardiac MRI |
Countries
China
Contacts
Primary ContactXi-Qi XU, MD. PhD.
Backup ContactXin JIANG, MD. PhD.
Outcome results
None listed