Coagulation factor V deficiency. From mutation to cure by advanced therapies
New article published in Anales de la Real Academia de Farmacia
January 1st, 2024
Lirias A., Bernal S., Serrano LJ., Bermejo-Alvarez P., Miguel-Batuecas A., Garcia-Olmo D., Garcia-Arranz M., Garcia-Bravo M., Segovia JC., Gonzalez-Brusi L., de Pablo-Moreno JM., Rodriguez-Bertos A., Garcia-Torralba A., Extremera MJ., Camero MD., Revuelta L. and de Pablo-Moreno JA.
This work represents a retrospective and updated review in a scientific context of itself Advanced Therapies group of the Complutense University of Madrid. The project, which began almost 7 years ago, has pursued the establishment of gene and cell therapy protocols for the treatment of coagulation factor V deficiency. This “trip” has been possible thanks to the Association for the Research and Cure of Factor V Deficiency, A Hope for Celia, through micro sponsorship or crowdfunding and through predoctoral contracts granted by the Complutense University of Madrid. The results obtained and presented in the present work have been very successful for this ultra-rare disease. The project was initiated with the complete study of the mutational cause in a patient (Celia) and the study of her progenitor segregation; then, with the establishment of a cellular and live animal models for the pathological mutation, using gene editing
with CRISPR; the measurement of factor V in mice was standardized, and finally, the proof of concept of a gene therapy lentiviral protocol was demonstrated. All these results have given rise to several articles published in high impact journals and two that are in the process of editorial review. Two patents have also been obtained on the correction of mutations in the F5 gene by gene editing and another on the viable
animal model itself with factor V deficiency. All these results open the door to future approaches in the preclinical phase in animal models to establish the guarantees of efficacy and safety of the gene therapy protocol with lentiviral vectors
 | Departamento de Genética. Facultad de Ciencias Biológicas. Universidad Complutense (UCM). 111 |
 | Hospital Santa Creu i Sant Pau. Generalitat de Catalunya. 111 |
| Centro de Investigaciones Energéticas, Medioambientales y Tecnólogias (CIEMAT). Ministerio de Economía, Industria y Competitividad (MINECO). 111 | |
 | Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA). 111 |
 | Fundación Jiménez Díaz. 111 |
| Servicio de Patología y Veterinaria Forense (SAP). Centro de Vigilancia Sanitaria Veterinaria (VISAVET). Universidad Complutense (UCM). 111 |
| Departamento de Medicina y Cirugía Animal. Facultad de Veterinaria. Universidad Complutense (UCM). 111 |
| Asociación para la Investigación y Cura del Déficit de Factor V. 111 | |
| Departamento de Fisiología (Fisiología Animal). Facultad de Veterinaria. Universidad Complutense (UCM). 111 |
