Sarcoidosis is an enigmatic disease characterized pathologically by granulomatous inflammation in the lung, heart, brain, eyes, skin, liver and other organs. It remains unclear why patients’ disease manifestations, severity and long-term prognoses vary so widely among the individuals affected. It also remains unclear why sarcoidosis’ prevalence and mortality are significantly higher among African-Americans and women. As such, sarcoidosis has become a disease of health disparities. The National Heart, Lung and Blood Institute (NHLBI) held a two-day workshop with the stakeholders of this disease to discuss how to leverage recent scientific advances to better understand sarcoidosis pathogenesis and to identify and help patients at-risk for severe sarcoidosis. The participants of the workshop included many experts outside of cardiology and pulmonary medicine since a more coordinated and collaborative approach by all stakeholders is needed to accelerate research in this disease and improve sarcoidosis patients’ outcomes.
Establish a cohort of rigorously phenotyped sarcoidosis patients with longitudinal follow-up data and serial biospecimens collected using standardized methodologies.This resource can be used
Standardize definitions of disease phenotypes, organ-specific measures of dysfunction, and templates for collection of data/quality of life measures to facilitate clinical management and future clinical studies
Establish standard of care for different phenotypes of sarcoidosis patients based on the best available evidence and then fill in the knowledge gaps with future clinical studies/trials. Devise new outreach strategies to communities with high prevalance and/or high burden of sarcoidosis patients and increase early referrals of at-risk patients to Centers of Excellence for advanced management and clinical trials.
Develop innovative approaches including both prevention and therapeutic interventions to reduce the burden and severity of disease among those most greatly affected.
Prioritize clinical trials that evaluate interventions for life-threatening complications of sarcoidosis and consider new trial strategies such as “randomized withdrawal design” for trials addressing rarer sarcoidosis complications such as neurosarcoidosis. Biospecimens from these sarcoidosis subjects in these trials should also be collected for future biomarkers/pathogenesis studies.
Apply “omics” and systems biology research to improve the molecular characterization of sarcoidosis disease phenotypes.
Develop animal models that recapitulate features and mechanisms found in chronic sarcoidosis.
Integrate and use healthcare electronic medical records systems to 1) assess sarcoidosis disease burden in the U.S. longitudinally; 2) determine the disease trajectories among patients with different disease phenotypes; 3) analyze the impact of pain, fatigue, depression, and cognitive dysfunction and other disabilities on patients and 4) determine the contribution of treatment complications, aging, and comorbid conditions to long-term morbidity and mortality in sarcoidosis.