Sickle Cell Disease (IV)

The Stroke with Transfusions Changing to Hydroxyurea trial

  • Randomized children with SCD and stroke with evidence of iron overload
  • Continued transfusions and iron chelation vs. hydroxyurea and phlebotomy
  • Conclusion: Simple or exchange transfusion with chelation remains the optimal treatment

SPRING trial (ongoing)

  • RCT Phase III
  • Efficacy of moderate fixed-dose vs. Low fixed-dose hydroxyurea for primary stroke prevention

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia (NEJM, 2020)

  • 2 pts (1 with Thalassemia and 1 with SCD)
  • CRISPR-Cas9 Gene editing
  • Increase in fetal hemoglobin, transfusion independence and elimination of vaso-occlusive episodes