Clin Hypertens.  2019 ;25(1):21. 10.1186/s40885-019-0126-8.

A Nationwide multicenter registry and biobank program for deep phenotyping of idiopathic and hereditary pulmonary arterial hypertension in Korea: the PAH platform for deep phenotyping in Korean subjects (PHOENIKS) cohort

Affiliations
  • 1Gachon Cardiovascular Research Institute, College of Medicine, Gachon University, Incheon, South Korea. heart@gachon.ac.kr
  • 2Division of Cardiovascular Disease, Department of Internal Medicine, Gachon University Gil Hospital, Medical Center, Incheon, South Korea.
  • 3Center for Genomics and Proteomics, Institute for Regenerative Medicine, Lee Gil Ya Cancer and Diabetes Institute, Gachon University, Incheon, South Korea.
  • 4Department of Cardiology, Sejong General Hospital, Bucheon, South Korea.
  • 5Department of Cardiology, Chonnam University Hospital, Gwangju, South Korea.
  • 6Department of Cardiovascular Medicine, School of Medicine, Gachon University, 21 Namdong-daero 774beon-gil, Namdong-gu, Incheon, 21565 Republic of Korea.

Abstract

BACKGROUND
Pulmonary arterial hypertension (PAH) is a progressive, chronic disease without curative treatment. Large registry data of these patient populations have been published, although, phenotypic variants within each subtype of PAH have not been elucidated. As interest towards personalized medicine grows, the need for a PAH cohort with a comprehensive understanding of patient phenotypes through multiomics approaches, called deep phenotyping, is on the rise. The PAH Platform for Deep Phenotyping in Korean Subjects (PHOENIKS) cohort is designed to collect clinical data as well as biological specimens for deep phenotyping in patients with idiopathic PAH (IPAH) and heritable PAH (HPAH) in Korea.
METHODS
A total of 17 regional hospitals are currently working on enrolling up to 100 consecutive IPAH/HPAH patients for obtaining clinical data and biological specimens across Korea. The diagnosis of PAH is based on right heart catheterization. All clinical data is stored in a government-based online database. Each participating hospitals collect a whole blood sample from each patient, through which DNA, RNA, serum, plasma, and peripheral blood mononuclear cells will be extracted from the buffy coat layer for further multiomics analysis.
RESULTS
Not applicable.
CONCLUSIONS
The PHOENIKS cohort is enrolling IPAH and HPAH patients across Korea to determine the prognosis and drug response in different phenotypic variant. The data generated by this cohort are expected to open new doors for personalized medicine in PAH patients of South Korea. TRIAL REGISTRATION: ClinicalTrials.gov NCT03933579. Registered on May 1st, 2019.

Keyword

Pulmonary arterial hypertension; Precision medicine; Blood bank; registries

MeSH Terms

Blood Banks
Cardiac Catheterization
Cardiac Catheters
Chronic Disease
Cohort Studies*
Diagnosis
DNA
Humans
Hypertension*
Korea*
Phenotype
Plasma
Precision Medicine
Prognosis
Registries
RNA
DNA
RNA
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