May, 2024
May 2024
Marco Donia: Welcoming the Era of Gene Editing in Medicine
May 2, 2024, 13:23

Marco Donia: Welcoming the Era of Gene Editing in Medicine

Marco Donia,

Autologous Gene-Engineered Cell Therapies for Genetic Diseases: Welcoming the Era of Gene Editing in Medicine.

About Exagamglogene Autotemcel (exa-cel):

Exa-cel utilizes CRISPR-Cas9 technology to edit the genome of CD34+ hematopoietic stem cells extracted from patients.

These cells are engineered at the erythroid-specific enhancer region of BCL11A, enabling the production of fetal hemoglobin, which effectively replaces the defective hemoglobin that causes severe symptoms in diseases like β-thalassemia and sickle cell disease.

Key Points:

Efficacy 1: Over 90% of patients with transfusion-dependent β-thalassemia treated with exa-cel achieve complete transfusion independence for more than 12 months.

Efficacy 2: Exa-cel has been shown to eliminate vaso-occlusive crises in 97% of patients with sickle cell disease for a period of 12 months or more.

Safety: The safety profile of exa-cel is comparable to that of traditional bone marrow transplantations, with most adverse effects being manageable and transient.

Take-Home Message:

Exa-cel is a transformative, potentially curative cell-based treatment, building on technological advances of the past decade.

Challenges: high costs (exceeding $2 million), the need for prolonged hospitalization, and the requirement for high-dose chemotherapy within highly specialized centers.

How These Therapies Are Made: .

Cell Collection: Patients undergo a process where hematopoietic stem cells are harvested.

Gene Editing: These cells are then genetically modified in a lab using the precise CRISPR-Cas9 system to promote the expression of fetal hemoglobin.

Reinfusion: The engineered cells are infused back into the patient, where they engraft and start producing healthy blood cells.

Perspective: The continued development of gene-edited cell therapies holds great promise for treating a variety of diseases.

Exa-cel and Lovo-cel are FDA approved.”

Marco Donia

Source: Marco Donia/LinkedIn