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phs000334.v1.p1 : NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Acute Lung Injury)
phs000686.v1.p1 : Genetic Risks for ALI in ARDSNet and the iSPAAR Consortium

Study Description

Acute Respiratory Distress Syndrome (ARDS)/ Acute Lung Injury (ALI) is a syndrome defined by the presence of acute hypoxemic respiratory failure, bilateral pulmonary infiltrates on chest radiograph, a known clinical risk factor (e.g. sepsis, pneumonia, trauma, gastric fluid aspiration, pancreatitis, massive transfusion), and the absence of physiologic or clinical evidence of congestive heart failure.

The Identification of SNPs Predisposing to Altered ALI Risk (iSPAAR) study is a multi-institutional cooperative study, funded through the NHLBI Recovery Act, that assembled samples and phenotype information from existing cohorts.

The consortium included samples from patients with ARDS from the NIH NHLBI ARDS Clinical Trials Network (ARDSNet). Samples were obtained from 3 interventional treatment trials in patients with ARDS, including the Fluid and Catheter Treatment Trial (FACTT), the Albuterol to Treat Acute Lung Injury (ALTA) trial, and the Omega-3 Fatty Acid/Antioxidant Supplementation for ALI trial (Omega).

In addition to ARDSnet samples, samples from the other cohorts included cases of established ARDS but also controls: critically ill patients who were at-risk for ARDS but who did not develop ARDS during their hospital course. These cohorts included the Molecular Epidemiology of Acute Respiratory Distress (MEA) Study enrolled at the Harvard University/Massachusetts General Hospital, the Systemic Inflammatory Immune Response Syndrome (SIRS) Patient Database and ICU Traumatic Injury cohorts from Harborview Medical Center, and cohorts collected from the ALI research programs at the University of Pennsylvania and the University of California, San Francisco.

The Cohort is utilized in the following dbGaP sub-studies. To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the "Sub-studies" section of this top-level study page phs000631 ARDSnet iSPAAR Consortium.

  • Study Weblinks:
  • Study Design:
    • Clinical Trial
  • Study Type:
    • Case-Control
Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria


  1. Caucasian
  2. Controls: patients at-risk for development of ARDS based on the presence of an ARDS risk factor (e.g., sepsis, pneumonia, trauma, aspiration, pancreatitis, massive transfusion) but who did not develop ARDS during their hospital course.
  3. Cases: patients with ARDS as defined by: 1) acute onset with P/F <300, 2) bilateral chest infiltrates on chest radiograph, 3) absence of clinical evidence for left atrial hypertension, and 4) use of invasive positive pressure mechanical ventilation.


  1. Metastatic cancer
  2. Hemodialysis dependence
  3. Hepatic failure
  4. Immunosuppression
  5. Burns
  6. Pregnancy
  7. Clinical evidence of elevated left atrial pressures

Study History

ARDS is an acute inflammatory lung disorder caused by a range of etiologies (e.g. sepsis, pneumonia, trauma, gastric fluid aspiration, pancreatitis, massive transfusion) associated with high mortality (20-25%). There are no specific treatments other than supportive care in the intensive care unit. ARDS can occur in people of all ages, but not all people with risk factors will develop ARDS. Susceptibility, in terms of which patients will (a) develop ARDS or (b) die if they get it, is not understood.

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
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See research articles citing use of the data from this study
Study Attribution