FAQs

What is PAH?
What is the PAH Biobank?
Where is the PAH Biobank?
What samples are collected by the enrolling centers?
What samples are being banked?
What genetic data is being generated by the PAH Biobank?
Where does the clinical data come from for the PAH Biobank?
How is patient data kept confidential at the PAH Biobank?

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What is PAH?
Pulmonary Arterial Hypertension (PAH) is a disease in which the arteries of the lung develop elevated pressure. As a result of this, the heart has to work harder to pump blood through the lungs. Over time, the right side of the heart can weaken or fail.

What is the PAH Biobank?
The National Biological Sample and Data Repository for Pulmonary Arterial Hypertension (PAH) aka the “PAH Biobank” is a NIH/NHLBI funded resource of biological samples, genetic data, and clinical data for the PAH research community. WHO Group 1 PAH patients meeting inclusion criteria may be enrolled in the biobank. Our goal is to create a resource of biological samples, genetic data, and clinical data that can be used by PAH researchers to better understand mechanisms of disease and further treatment.

Where is the PAH Biobank?
The PAH Biobank is maintained at Cincinnati Children’s Hospital Medical Center in the laboratory of Dr. William Nichols. All samples are processed in house and stored in secured refrigerators, -20 °C, -80 °C, or liquid nitrogen freezers. A portion of the samples are stored off-site with the Cincinnati Biobank at a secured facility to adhere with Biobanking best practices.

What biological samples are collected from participants by the enrolling centers?
Participants meeting inclusion criteria, after obtaining informed consent, have blood drawn through venipuncture. Up to 48.5mls of blood is drawn and shipped overnight to the PAH Biobank in Cincinnati.

What specimens are being banked?
Specimens prepared and banked from participant’s whole blood can include DNA, plasma, serum, RNA, cDNA and immortalized cell lines.

What genetic data is being generated by the PAH Biobank?

  • Whole genome genotype data using the Illumina HumanOmni 5M system.
  • Coding sequence data on genes known to be implicated in PAH with the Illumina TruSeq Custom Amplicon system.
  • Dosage data on BMPR2, ALK1 and ENG using Multiplex Ligation-dependent Probe Amplification (MLPA) and confirmed by TaqMan Gene Expression Assays.

Where does the clinical data come from for the PAH Biobank?
Enrolling Centers for the PAH Biobank are directed by physicians who treat patients for PAH and have the medical records for participants readily available. The Enrolling Centers complete an electronic case report form (eCRF) with the applicable clinical data for each consented participant with information from their medical records.

How is patient data kept confidential at the PAH Biobank?
Each participant is given a numerical research subject ID, and no Personal Health Information (PHI) is received or kept by the PAH Biobank for participants enrolled in institutions outside of Cincinnati Children’s. All samples and data for a participant are only known by the research subject ID at the PAH Biobank.

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