Potential new treatment paradigm for WHIM patients with refractory disease

2019

Challenge

WHIM syndrome is a disorder that weakens that immune system, leaving patients more susceptible to bacterial infections and human papillomavirus (HPV). Unfortunately, current treatments do not relieve all the condition’s symptoms and can cause disabling bone pain, problems with the production of blood cells, and other severe side effects. A new treatment would serve as a lifeline to patients who cannot receive the currently available therapy and, as a result, experience extraordinarily severe and debilitating symptoms.

Advance

IRP researchers, led by Philip Murphy, M.D., and David McDermott, M.D., identified and enrolled three patients with advanced WHIM syndrome who could not receive the standard treatment in an open-label study in which the patients were given low doses of the drug plerixafor. All three patients experienced a reduction in the frequency of infection and a significantly improved quality of life.

Impact

Treatment with plerixafor represents a new paradigm for treating WHIM patients whose symptoms cannot be controlled with standard therapies. Accordingly, a randomized, double-blind, Phase 3 trial comparing the standard treatment to plerixafor has been designed to assess plerixafor’s clinical efficacy and to acquire additional safety information (ClinicalTrials.gov identifier NCT02231879).

Publications

McDermott D, Pastrana D, Calvo K, Pittaluga S, Velez D, Cho E, Liu Q, Trout HH 3rd, Neves J, Gardner P, Bianchi D, Blair E, Landon E, Silva S, Buck C, Murphy P. (2019). Plerixafor for the Treatment of WHIM Syndrome. N Engl J Med. 380(2):163-170.