Are we finally addressing the urgent unmet needs in sickle cell disease?

In December 2024, significant advancements were reported in the treatment of non-malignant blood disorders, particularly sickle cell disease (SCD) and immune thrombocytopenia (ITP). Researchers highlighted the efficacy and safety of the oral Bruton tyrosine kinase inhibitor (BTKi) rilzabrutinib in a phase III clinical trial involving adults with ITP. About 25% of those treated with rilzabrutinib achieved a durable platelet response, a notable improvement compared to placebo groups, emphasizing its potential as a new therapeutic option. Additionally, the trial showcased secondary benefits, such as reductions in fatigue and improvements in bleeding incidents among participants. Such findings are crucial as patients with ITP often struggle with uncontrolled bleeding due to inadequate responses to traditional therapies. Alongside the advancements in ITP treatment, studies on etavopivat for sickle cell disease indicated a reduction in vaso-occlusive crises (VOCs), a common and painful complication of SCD. Participants using etavopivat experienced fewer VOCs and a marked increase in hemoglobin levels. These findings further bolster the possibility that etavopivat might significantly improve the quality of life for individuals suffering from SCD. Experts highlighted the necessity of identifying the right patient demographics for these newer therapies and examining their compatibility with existing treatment protocols. Importantly, researchers also discussed the safety and efficacy of hydroxyurea for individuals with the hemoglobin SC variant of SCD. Conducted in Ghana, the PIVOT clinical trial showcased hydroxyurea's capability to enhance overall health and well-being for patients with the HbSC variant, which was previously under-studied. Given that a considerable subset of SCD patients have the HbSC variant, these findings could lead to a paradigmatic shift in the treatment approach for this population. Beyond drug therapies, a retrospective analysis emphasized the importance of fertility preservation among individuals with SCD, given the potential effects of the condition and its treatments on fertility. The study found that fertility preservation procedures were safe under expert care, although complications during these procedures were noted, particularly prevalent among individuals who had experienced frequent VOCs. As new therapies arise that may affect fertility, ensuring access to fertility preservation methods becomes increasingly essential for patients to maintain their reproductive health and options in the future.