Gene therapy for sickle cell anemia: Genethon has contributed its expertise to the design of an innovative vector
In a press release published on March 5, 2025, the collaboration between SK pharmteco Cell & Gene Europe, AP-HP, AFM-Téléthon and the Imagine Institute for the production of lentiviral vectors as part of an innovative clinical trial on sickle cell disease was announced. A breakthrough to which Genethon has contributed.
This collaboration focuses on the development of a gene therapy for sickle cell anemia using an ex vivo gene modification approach with a lentiviral vector of hematopoietic stem and progenitor cells (HSPC).
Sickle cell anemia, a genetic hemoglobin disorder, affects millions of people worldwide, causing severe pain, chronic anemia and life-threatening complications.
Faced with this major medical challenge, Généthon, the AFM-Téléthon laboratory dedicated to the research and development of gene therapies for rare diseases, through Mario Amendola, Head of the Gene Editing Laboratory, collaborated on the design of the lentiviral vector against this disease with the laboratories of Annarita Miccio and Marina Cavazzana, Research Directors at the Imagine Institute.
The strategy used consists of introducing a therapeutic gene into the patient’s hematopoietic stem cells, thus enabling the production of functional red blood cells.
The major innovation of this vector is based on the introduction of microRNA, a dual strategy that both inserts a gene of interest and reduces the expression of the diseased gene. Mario Amendola, with his expertise in microRNAs developed through other projects, contributed to this breakthrough. His experience made it possible to optimize the construction of the lentiviral vector, thus promoting the expression of the therapeutic gene.
“This collaboration has enabled us to draw on our respective knowledge to design an innovative vector. Seeing this breakthrough is a great satisfaction and a fine illustration of the teamwork between the different laboratories,” emphasizes Mario Amendola.
Genethon is pursuing its commitment by continuing to develop other strategies, notably via CRISPR, to transform the lives of patients with rare diseases such as sickle cell anemia.
