GATA1 Gene Therapy for Diamond-Blackfan Anemia
A unified lentiviral vector based gene therapy approach, which has potential to treat DBA in all patients
Background
Diamond-Blackfan anemia (DBA) is a rare inherited disorder that that occurs when the bone marrow fails to make red blood cells, thereby leading to severe anemia.
Current therapeutic options to treat DBA include steroid therapy, blood transfusion, and stem cell transplantation. However, all of these treatments have their own limitations and come with number of adverse side effects. There is an unmet medical need for alternative curative treatment for DBA with consistent success rates and few side effects.
Technology Overview
A group of clinicians and researchers at Boston Children’s Hospital have developed a unified lentiviral vector based gene therapy approach, which has potential to treat DBA in all patients irrespective of the underlying cause of the disease. During their research on DBA, the inventors identified loss-of-function mutations in GATA1 gene to be associated with DBA patients and demonstrated that increasing GATA1 protein levels through lentiviral expression was sufficient to rescue red blood cells differentiation defect present in cells from DBA patients, irrespective of the genetic mutation present.
Technology Proof of Concept
Based on preliminary data with DBA models and patient samples, this approach enables sufficient GATA1 expression to overcome the underlying defects in DBA. In addition, safety data suggests that this approach can be safely applied to blood stem cells without adverse consequences. This approach sets the stage for a first lentiviral gene therapy cure for DBA. Critical IND enabling safety studies are currently being performed for a planned IND application at the end of 2023. GMP clinical grade vector for a phase I/II study has already been produced, as well.
Benefits
- A unified gene therapy treatment for DBA irrespective of causative mutation
- One-time treatment strategy
- No need for donor and no need for prolonged immunosuppressive therapy as is in case of stem cell transplantation
Applications
Further Details:
Regulated Expression of GATA1 As a Gene Therapy Cure for Diamond-Blackfan Anemia. Oral Presentation, ASH Annual Meeting and Exposition, December 2022
