Gene therapy for Pyruvate Kinase Deficiency and Congenital Dyserythropoietic Anemia Type II

Speakers: José Carlos Segovia, Mercedes Dessy Rodríguez, Oscar Quintana Bustamante, Isabel Ojeda-Pérez

The ERN-EuroBloodNet Patients Webinar: Gene Therapy for Pyruvate Kinase Deficiency and Congenital Dyserythropoietic Anemia Type II aims to inform patients and their families about cutting-edge gene therapy technologies being developed to treat these two diseases: PKD and CDAII. Clinical and preclinical results from two different gene therapy approaches-lentiviral gene therapy and gene editing-will be presented by experts in the field. The webinar will highlight the potential and future perspectives of gene therapy for PKD and CDAII, and will also present the results of a recent survey conducted to understand patients' expectations and needs regarding these potential therapies.

José Carlos Segovia Sanz, PhD, is Head of the Cellular Technology Division of CIEMAT/CIBERER/IIS-FJD in Madrid, Spain. His research centers on hematopoietic stem cell biology, with a primary focus on developing gene therapy protocols for genetic disorders, notably Pyruvate Kinase Deficiency (PKD). Several of his gene therapy strategies have received orphan drug designations from the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA). Currently, his lentiviral-based gene therapy for PKD is under evaluation in a clinical trial.

Mercedes Dessy Rodríguez, PhD, is a researcher at the Biomedical Innovation Unit of CIEMAT/CIBERER/IIS-FJD in Madrid, Spain. She is involved in the generation of a human cellular model and the development of advanced therapies for Congenital Dyserythropietic Anemia Type II, focusing on lentiviral vectors and gene editing.

Oscar Quintana Bustamante, PhD, is a researcher at the Cellular Technology Division of CIEMAT/CIBERER/IIS-FJD in Madrid, Spain. He is involved in gene therapy research for inherited anemias, including Pyruvate Kinase Deficiency (PKD) and Congenital Dyserythropoietic Anemia Type II (CDA II), and he contributes to various orphan drug designations for these diseases. His focus is on gene editing and lentiviral therapies.

Isabel Ojeda-Pérez, PhD, is a researcher at the Biomedical Innovation Unit of CIEMAT/CIBERER/IIS-FJD in Madrid, Spain. Her work focuses on gene therapy for inherited anemias, particularly Pyruvate Kinase Deficiency (PKD), and the development of non-genotoxic conditioning strategies to improve the safety and accessibility of hematopoietic stem cell transplantation.