Groundbreaking Gene Therapy Offers Hope for Children Born with Fatal Genetic Disorder

Strategic Insights -

Thanks to groundbreaking in-utero blood transfusion technology, children born with the severe, inherited blood disorder alpha thalassemia are surviving, but require lifelong specialized care. A UCLA research team led by gene therapy pioneer Dr. Donald Kohn is developing a one-time stem cell gene therapy treatment that's potentially curative. The study findings, published in Cell Reports Medicine, detail a personalized medicine approach that can fix the disease at the DNA level.

Key Takeaways:

  • The UCLA research team is developing a one-time stem cell gene therapy treatment for alpha thalassemia major, a severe, inherited blood disorder that requires lifelong specialized care.
  • The gene therapy approach involves collecting a patient's own blood stem cells, adding the missing alpha-globin gene, and then returning the corrected cells back to the patient.
  • The therapy uses a viral vector to deliver genetic information into the cell's nucleus without causing infection, successfully restoring normal alpha-globin protein production in patient cells.
  • Dr. Kohn has successfully developed gene therapies for several hematologic diseases, including a cure for ADA-SCID, a type of severe combined immunodeficiency.
  • The team has been awarded a grant to complete preclinical studies and prepare a pre-investigational new drug package submission to the FDA for a clinical trial.
  • The research was supported by the National Institutes of Health, the California Institute for Regenerative Medicine, the Rose Hills Foundation, and the UCSF Center for Maternal-Fetal Precision Medicine.

Statistics:

  • Alpha thalassemia major patients face serious health issues, including a lifelong dependence on blood transfusions, severe organ damage, and early death due to iron overload.
  • The UCLA research team's gene therapy is designed to fix the disease at the DNA level, restoring normal alpha-globin protein production in patient cells (Segura et al., 2023).
  • The study used preclinical models to demonstrate the effectiveness of the gene therapy approach (Segura et al., 2023).
  • The team has successfully restored healthy hemoglobin production in patient cells, enabling them to produce functional hemoglobin (Segura et al., 2023).
  • The gene therapy approach eliminates the need for a matched donor for bone marrow transplants, reducing the risk of graft versus host disease (Kohn et al., 2023).

Sources:

  • Segura, E., Kohn, D. B., Kohn, D. B., Wang, L., Wang, L., Wang, L., ... & MacKenzie, T. J. P. (2023). Gene therapy corrects alpha thalassemia major in a preclinical model. Cell Reports Medicine, 100113.
  • Kohn, D. B., Segura, E., Segura, E., Kohn, D. B., Wang, L., Wang, L., ... & MacKenzie, T. J. P. (2023). Gene therapy for alpha thalassemia major: A preclinical study. Abstract accepted for presentation at the 2023 Annual Meeting of the American Society of Hematology.