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National Biological Sample and Data Repository for Pulmonary Arterial Hypertension


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Conference: 2014 International PHA Conference and Scientific Sessions

Release Date: 06.21.2014

Presentation Type: Abstracts

File Download: 2014 Conference Abstract - William Nichols

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Background: To create a useful resource of patient material for the PAH research community that will enable well powered studies, we have established the National Biological Sample and Data Repository for PAH with funding from the National Heart, Lung, & Blood Institute (HL105333).

Methods: Biological samples, clinical data, and genetic data are being collected on approximately 3,000 WHO Group 1 PAH patients. Twenty four pulmonary hypertension centers, including four pediatric centers, across the United States have been enlisted to enroll patients, collect peripheral blood samples, and enter clinical data into a web-based eCRF. A portion of the patients to be recruited for the biorepository were previously enrolled in a multicenter, observational, U.S.-based Registry of PAH. Enrollment includes treatment naïve patients to allow collection of serum/plasma samples both before and six months to one year after initiation of drug therapy. Serum and plasma are being isolated and banked using the patient blood samples shipped overnight from the enrolling centers. Additionally, both DNA and RNA are being isolated from a portion of the obtained lymphocytes. Immortalized lymphocyte cell lines are also being established. Genetic data are being generated for each patient including genotypes for genome wide SNPs (Illumina HumanOmni5) and coding sequence/MLPA data for BMPR2, ALK1, ENG, CAV1, SMAD9, and KCNK3 (Illumina TruSeq Custom Amplicon/MRC Holland). Additional genes determined to be causal for/associated with PAH can be added for screening as identified. Biological samples, clinical data, as well as SNP genotype and sequencing data for the patients will be made available to the scientific community using a web-based application process. The samples and data will become available for request when the data are complete for the first 500 patients enrolled and for every 500 additional enrolled patients thereafter.

Results: To date, 1047 patients have been enrolled and sampled. Primary Diagnosis:  46% IPAH, 46% APAH, 3% HPAH, <1% PVOD, <1% PPHN, 5% unreported. Gender:  78% Female, 22% Male. Race: 84% White, 10% Black or African American, 3% Asian, 2% Other. Ethnicity:  81% Non-Hispanic, 13% Hispanic or Latino, 6% Unknown/Other. 33 treatment naïve patients have been enrolled. Genome wide SNP data have been generated for 475 patients, and NextGen sequencing conducted on 380 patients. On average, 36 200-ul plasma aliquots and 27 200-ul serum aliquots are banked per patient. 

Conclusions: The National Biological Sample and Data Repository for PAH represents an unparalleled collaboration between pulmonary hypertension centers in the United States to enable the collection of the largest cohort of PAH patients’ biological samples, clinical data, and genetic data available for study. This endeavor will provide the PAH research community an opportunity for here to now unprecedented hypothesis-driven studies.