On May 8-9, 2007, ASH held a highly successful sickle cell workshop in Washington, DC, aimed at developing a research agenda for sickle cell disease (SCD). The workshop explored the identification of risk factors in childhood that predict end-organ damage in adults, along with the development of new treatment paradigms to ameliorate complications or prevent them altogether. The authors chaired the workshop, assembling a group of 20 ASH members nationally recognized for their expertise in sickle cell disease and particularly in identification of risk factor measurement, treatment of organ injury, and prevention approaches at rather short notice (with the valuable assistance of Stephanie Kart, ASH Government Relations and Practice Specialist).
The meeting was a huge success. Fruitful discussion centered on the lungs, heart, kidneys, and brain as the primary target organs known to suffer from dysfunction in adult patients, despite many of them being relatively spared during childhood. Methods to measure and then monitor organ function were debated, and clinical events and laboratory tests, novel biomarkers, and genomic approaches were analyzed and prioritized. Issues concerning the prevention and management of pain were also given high priority.
The final segment of the two-day meeting emphasized standard interventions, such as chronic transfusion, hydroxyurea, and stem cell transplantation, as well as novel approaches, including gene therapy and new agents that might be used to raise fetal hemoglobin. In order to facilitate the design and execution of the research agenda, a key recommendation of the workshop participants was the assembly of an NIH-funded multi-institutional collaborative clinical research group that would include a large number of academic centers demonstrating the ability to conduct the required studies. This national research group would be charged with, among other tasks, developing a patient registry that includes retrospective and prospective clinical data and is linked to a DNA repository and repeatedly analyzing biomarkers of disease severity and treatment efficacy. Such a clinical trials consortium would be tightly connected with peer-reviewed basic and translational investigations.
The workshop’s final report identifying key unanswered research questions in SCD was presented at the American Society of Pediatric Hematology-Oncology’s Sickle Cell Disease Summit: From Research Disparity to Action in June, shared with NIH officials, and subsequently distributed to the entire ASH membership.
