Cure Sickle Cell Initiative Standardized Data Forms for Genetic Therapy Studies

Publication Type
Conference Paper
Year of Publication
Sophie Lanzkron; Alexis Thompson; Traci Mondoro; Patrick Carroll; Michael DeBaun; Julie Kanter; Punam Malik; Deepa Manwani; John Pierciey; Mark Walters; Traci Clemons; Victoria Coleman-Cowger; Sherita Alai
American Society of Gene and Cell Therapy
Date Published
common data elements (CDEs); CureSCi; genetic-based cures; Sicle-cell anemia
The Cure Sickle Cell Initiative (CureSCi) was created in 2017 by the National Heart, Lung, and Blood Institute (NHLBI) to accelerate the development of safe and promising genetic therapies to improve the lives of individuals with sickle cell disease (SCD). The CureSCi has worked to actively engage the SCD community of patients, family members, caregivers and advocates to work together on a path to finding genetic-based cures while also encouraging collaboration among researchers, industry, non-profit organizations, and policy-making agencies. As a component of CureSCi, genetic research-specific common data elements (CDEs) for SCD were curated and developed in order to: accelerate clinical research development; build upon consensus data elements; and facilitate start-up of multi-center clinical research efforts. In early 2020, the CureSCi CDE Working Groups (WGs) comprised of clinicians, researchers, patient advocates and industry members from 35+ institutions/organizations/companies began to review current study forms and recommendations in SCD clinical studies from American Society of Hematology (ASH), US Food and Drug Administration (FDA), PhenX catalog of consensus measures for phenotypes and exposures, Center for International Blood and Marrow Transplant Research (CIBMTR), and various other research entities. CDEs were identified, developed, and vetted by experts in the scientific community through a process that was transparent and inclusive, including a 6-week public review period. The five (5) WGs: 1) Genetics and Assays; 2) Physical Examination/Medical History; 3) Cardiopulmonary, Renal and Cerebrovascular; 4) Outcomes; and, 5) Monitoring for Side Effects; compiled this library of recommended CDEs to represent the current state of science and annotated them in a hierarchical fashion. Core data elements represent the essential/required information applicable to any SCD genetics study; Supplemental-Highly Recommended data elements are essential for specific domain but not required in all SCD genetics studies. Supplemental data elements are those commonly collected in clinical research studies where use depends upon the study design, protocol or type of research involved; and Exploratory data elements require further validation but fill current gaps and are reasonable to use with the understanding that there is limited validation in the target group. These CDEs are posted on the website and on the National Library of Medicine (NLM) website ( The NHLBI is strongly encouraging use of the recommended CDEs by the clinical research community to expedite study start-up, standardize data collection and allow for future data sharing. A standardized set of clinical research recommendations will increase efficiency and effectiveness of SCD clinical research studies, increase data quality and help educate new clinical investigators in the active field of SCD genetic research. This first iteration of the CDE recommendations will be updated on an annual basis to ensure incorporation advances in gene therapy and gene editing as well as other developed standards for SCD.