Transfusion dependent beta thalassemia (TDT) and sickle cell disease (SCD) are the most common monogenic diseases worldwide, with an annual diagnosis in approximately 60,000 patients with TDT and 300,000 patients with SCD. Treatment options primarily consist of transfusion and iron chelation in patients with TDT and pain management, transfusion, and hydroxyurea in those with SCD. Allogeneic bone marrow transplantation can cure both TDT and SCD but less than 20% of eligible patients have related HLA matched donor. Autologous gene edited peripheral blood stem cell transplant can potentially provide treatment options for majority of patients. We will present preliminary data on our ongoing CRISPR-Cas9 gene editing clinical trial for TDT and SCD.
- Review complications and treatment options for patients with transfusion dependent beta thalassemia (TDT) and sickle cell disease (SCD).
- Understand difference between gene addition and gene editing approach using autologous stem cell transplantation to treat SCD disease and TDT.
- Present outcome data using CRISPR-Cas9 to induce fetal hematopoiesis in patients with TDT and SCD.
Haydar Frangoul, MD, MS
Annette Kim, MD, PhD