Emerging treatments
Gene therapy
This treatment replaces a normal copy of the WAS gene in hematopoietic cells to restore normal production of WAS protein and correct cytoskeletal dysfunction. CD34 stem cells are isolated from bone marrow or peripheral/cord blood and infected with modified viruses to introduce the normal gene copy. This is integrated into the host cell genome. Gene therapy is an alternative to bone marrow transplant and will initially be used for WAS patients who do not have a suitable bone marrow donor. Clinical trials are currently in progress.[26][27][28]
Thrombopoietin receptor agonists
Thrombopoietin receptor agonists can increase platelet counts and reduce bleeding severity for some patients. In one phase 2 trial, eltrombopag was used for patients with WAS and X-linked thrombocytopenia, and treatment resulted in increased platelet count in 5 out of 8 patients.[29] Thrombopoietin receptor agonists have been classified as not suitable if there is a need for surgery, or when there has been an inadequate response to rescue therapies. It has been shown that treatment should be discontinued if there is inadequate response following 4 weeks at maximum dose.[29] Data regarding long-term safety and efficacy are lacking.
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