The Georgia Cystic Fibrosis Data Warehouse

1 PROJECT SUMMARY 2 Cystic fibrosis (CF) is the second-most common life-shortening inherited disease of Americans, arising from 3 mutations in the gene encoding the CFTR ion channel. A lifelong disease, CF impacts multiple organ systems 4 resulting in substantial treatment burden, although most of the morbidity and mortality is associated with

5 pulmonary disease. Through time, more organ systems become engaged and contribute to health outcomes 6 for people with CF (PwCF) via comorbidities such as CF-related diabetes (CFRD). Recently, highly effective 7 CFTR modulator therapies (HEMTs) have been developed so that now 90% of PwCF have CFTR mutations

8 for which HEMTs are approved. These drugs will increase longevity even further and this raises the prospect of 9 increased complications, increased treatment burden, and increased healthcare complexity for PwCF. 10 This increased longevity for PwCF and development of comorbidities as patients age increase the need for

11 longitudinal study of disease progression in this cohort, linking clinical outcomes to studies of patient-derived 12 samples and the patients, themselves, thus requiring new Data Resources to accomplish this goal. Emory 13 University established the CF Biospecimen Repository (CF-BR) in 2010 to enable provision of CF patient-

14 derived samples to basic/translational researchers. The CF-BR provided 3770 CF samples to 39 different 15 research labs since 2015, and now banks >12,000 samples. In 2020, an NIH P30 grant was awarded 16 (P30DK125013) to Emory, Georgia Tech, and Augusta University to form the “Georgia CF Research and

17 Translation Core Center”. One goal under the P30 was to develop the Georgia CF Data Warehouse 18 (GACFDW), a cloud-based high-quality computational infrastructure that would support access to integrated 19 clinical and research data. The GACFDW for the P30 award is built around a longitudinal cohort of 104 PwCF

20 aged 4 to 78 who are studied annually for progression of major non-pulmonary complications of CF. 21 The present proposal seeks to leverage our very successful experience with the CF-BR to expand the 22 GACFDW to include the clinical data on all 900 people with CF followed at Emory and Augusta, plus expand

23 the research data to include the wealth of CF pulmonary investigation conducted by CF scientists at our 24 institutions and elsewhere. Our goal is to develop the GACFDW into a unique resource that will strengthen CF 25 researchers’ ability to integrate multiple research data streams with patient clinical status, providing new

26 opportunities to understand factors contributing to disease progression and response to therapy. To achieve 27 this goal, we propose to: (1) develop and manage the GACFDW; (2) engage more fully and continuously 28 address the needs of the core users of the CF-BR to support data analysis, data sharing, and data

29 preservation; (3) provide training to faculty, staff, and trainees on the effective and ethical use of the GACFDW 30 as a Data Resource; and (4) promote the use of the GACFDW by outside institutions across the nation, and, 31 where relevant, assist in development of similar CF-focused Data Resources at outside institutions.