Clinical trial NCT03169010: Registration Study for Rare Type of Pulmonary Hypertension
Official title: Registration Study for Rare Type of Pulmonary Hypertension
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pulmonary Hypertension
Keywords: registry
pulmonary hypertension
survival
biomarker
whole genome sequencing
Lead sponsor: China National Center for Cardiovascular Diseases
Sponsor class: OTHER_GOV
Collaborators: name: Peking Union Medical College Hospital
First posted: 2017-05-30
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Rare type of pulmonary artery hypertension

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.

Eligibility criteria: 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

Primary outcomes:
measure: Survival Rate of Participants
timeFrame: up to 10 years, at 12 months interval
measure: Lung transplantation
timeFrame: up to 10 years, at 12 months interval
measure: Change in New York Heart Association (NYHA) functional class
timeFrame: up to 10 years, at 3 months interval
measure: Change in 6 mint walk distance
timeFrame: up to 10 years, at 3 months interval
Secondary outcomes:
measure: Genetic alteration in participants with rare type of PH
timeFrame: Baseline
measure: Change in NT-proBNP
timeFrame: up to 10 years, at 3 months interval
measure: Change in hemodynamics
timeFrame: up to 10 years, at 6 months interval
measure: Change in cardiac function
timeFrame: up to 10 years, at 3-6 months interval
measure: Pulmonary endarterectomy (PEA)
timeFrame: up to 10 years, at 6 months interval
measure: Balloon pulmonary angioplasty (BPA)
timeFrame: up to 10 years, at 6 months interval
measure: Medical treatment
timeFrame: up to 10 years, at 6 months interval
Other outcomes:
Locations:
city: Beijing
country: China
facility: Chinese Academy of Medical Sciences Fuwai Hospital and Peking Union Medical College Hospital
state: Beijing
Study officials:
affiliation: Chinese Academy of Medical Sciences, Fuwai Hospital
name: Zhi-Cheng JING, MD. PhD.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Galie N, Corris PA, Frost A, Girgis RE, Granton J, Jing ZC, Klepetko W, McGoon MD, McLaughlin VV, Preston IR, Rubin LJ, Sandoval J, Seeger W, Keogh A. Updated treatment algorithm of pulmonary arterial hypertension. J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D60-72. doi: 10.1016/j.jacc.2013.10.031.
citation: Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP, Elliott CG, Gaine SP, Gladwin MT, Jing ZC, Krowka MJ, Langleben D, Nakanishi N, Souza R. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S43-S54. doi: 10.1016/j.jacc.2009.04.012.