Paula Ragan, PhD, CEO and President, X4 Pharmaceuticals, discusses data presented at The American Society of Hematology Meeting & Exposition (ASH 2021) using artificial intelligence/machine learning model to estimate the prevalence of WHIM syndrome in the United States.
WHIM syndrome is a primary immunodeficiency disease due to mutations in the CXCR4 receptor gene. The syndrome is named for the characteristic symptoms often present – Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Due to the nature of the symptoms, it can be years before these patients are properly diagnosed.
As Dr. Ragan notes, WHIM syndrome is thought to be underdiagnosed due to the absence of an International Classification of Diseases (ICD)-10 code as well as inconsistent coding for key symptoms of the rare syndrome. In this study, 32 patients with genetically confirmed WHIM syndrome were identified by linking unidentified patients to known physicians and matching clinical and demographic features. Using this group as a positive training class, an artificial intelligence/machine learning (AI/ML) model was deployed to identify patients with WHIM look-alike clinical phenotypes in the database. Patients were further filtered based on clinical features to generate low and high prevalence estimates. A final prevalence number for the US was projected to account for incomplete coverage of the US population in the claims database. Finally, insurance codes for WHIM syndrome symptoms, treatments, and management were analyzed to investigate the burden of disease in patients identified by the model.
Overall, the AI/ML model showed a high predictive value for distinguishing patients with known WHIM syndrome from a random sample of age-matched patients in the database and generated estimates ranging from 1803 (low) to 3718 (high) patients with WHIM look-alike phenotype in the US. Analysis of medical history in the high-estimate WHIM look-alike group revealed symptomatic and severe disease, as evidenced by a number of factors such as need for respiratory services, and ≥1 instance of use of granulocyte colony-stimulating factor (41%) or intravenous immunoglobulin (46%) therapy.
To learn more about WHIM syndrome, visit checkrare.com/whim-syndrome.