Registration Study for Rare Type of Pulmonary Hypertension

NCT03169010 | Recruiting DMC

• 1 other identifier: RarePH135
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Pulmonary Hypertension

Keywords

registry; pulmonary hypertension; survival; biomarker; whole genome sequencing

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (7)

• Genetic alteration 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

  up to 10 years, at 3-6 months interval

• Pulmonary endarterectomy (PEA)

  up to 10 years, at 6 months interval

Study Arms (8)

Idiopathic Pulmonary Artery Hypertension

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; Genetic: Genetic analysis

Hereditary PAH

Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to hereditary PAH.

Other: laboratory biomarker analysis; Genetic: Genetic analysis

Hereditary Hemorrhagic Telangiectasia

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; Genetic: Genetic analysis

Pulmonary Veno-Occlusive Disease (PVOD)

Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to PVOD.

Other: laboratory biomarker analysis; Genetic: Genetic analysis

Pulmonary Capillary Hemangiomatosis

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; Genetic: Genetic analysis

Cavernous Transformation of Portal Vein

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; Genetic: Genetic analysis

CTEPH

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; Genetic: Genetic analysis

Pulmonary Takaysu Arteritis

Investigators will conduct laboratory biomarker analysis and genetic analysis to identify pathogenesis or factors related to Pulmonary Takaysu Arteritis.

Other: laboratory biomarker analysis; Genetic: Genetic analysis

Interventions

laboratory biomarker analysis OTHER

Laboratory results will be analysed to identify disease related biomarkers.

CTEPH; Cavernous Transformation of Portal Vein; Hereditary Hemorrhagic Telangiectasia; Hereditary PAH; Idiopathic Pulmonary Artery Hypertension; Pulmonary Capillary Hemangiomatosis; Pulmonary Takaysu Arteritis; Pulmonary Veno-Occlusive Disease (PVOD)

Genetic analysis GENETIC

Gene sequencing results will be analysed to identify disease related mutations.

CTEPH; Cavernous Transformation of Portal Vein; Hereditary Hemorrhagic Telangiectasia; Hereditary PAH; Idiopathic Pulmonary Artery Hypertension; Pulmonary Capillary Hemangiomatosis; Pulmonary Takaysu Arteritis; Pulmonary Veno-Occlusive Disease (PVOD)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Rare type of pulmonary artery hypertension

You may qualify if:

• 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.

You may not qualify if:

• 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;
• Participant is willing and able to give informed consent for participation in the study.
• Self-reported to be healthy

Sponsors & Collaborators

• China National Center for Cardiovascular Diseases: lead
• Peking Union Medical College Hospital: collaborator

Study Sites (1)

Chinese Academy of Medical Sciences Fuwai Hospital and Peking Union Medical College Hospital

Beijing, Beijing Municipality, 100037, China

RECRUITING

Related Publications (2)

• 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.

  PMID: 24355643 BACKGROUND

• 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.

  PMID: 19555858 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

All subjects will have a sample of blood taken for Sanger or whole genome sequencing.

MeSH Terms

Conditions

Hypertension, Pulmonary

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases; Hypertension; Vascular Diseases; Cardiovascular Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Zhi-Cheng JING, MD. PhD.

  Chinese Academy of Medical Sciences, Fuwai Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Xi-Qi XU, MD. PhD.

CONTACT

+861088322267; xuxiqi0928@163.com

Xin JIANG, MD. PhD.

CONTACT

+861088396016; jxcs983@163.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of Thrombosis and Hemostasis Center of Chinese Academy of Medical Sciences Fuwai Hospital

Study Record Dates

• First Submitted: May 23, 2017
• First Posted: May 30, 2017
• Study Start: May 6, 2017
• Primary Completion (Estimated): December 31, 2040
• Study Completion (Estimated): December 31, 2040
• Last Updated: October 2, 2023

Record last verified: 2023-09

Locations

CN (1)