European Commission designates an Orphan Drug for the pyruvate kinase deficiency treatment

Orphan designation was granted by the European Commission to CIEMAT/CIBERER/IIS-FJD for the “lentiviral vector containing the human liver and erythroid pyruvate kinase (PKLR) gene” for the treatment of pyruvate kinase deficiency

April 7, 2015

Pyruvate kinase deficiency (PKD) is a rare anaemia caused by mutations in the gene that codifies the pyruvate kinase enzyme, which impairs directly the metabolic energy of red cells and results in the reduced lifespan and early breakdown of erythrocytes in the blood.

Hemolytic anaemia represents the main clinical symptom of PKD. Supportive treatments, such as periodic red blood cell transfusions, are provided in order to alleviate the associated signs of the disorder. Allogeneic bone marrow transplantation represents the only curative treatment so far, however, the difficulty of finding an available matched donor together with the potential complications associated to the procedure, restricts its performance to a very specific cases.

The project directed by Dr. José Carlos Segovia, and funded by different institutions such as European Commission (7º Framework Programme), como la Comisión Europea (7º Programa Marco), the Ministry of Economy and Competitivity (National Research Programs), the Health Institute “Carlos III” (Tematic Networks in Cooperative Research and CIBERER), the Botin Foundation and the Health Research Institute “Fundación Jiménez Díaz, have lead to the proclamation by the European Commission of the “lentiviral vector containing human liver and erythroid pyruvate kinase (PKLR) gene” as the new Orphan Drug for the PKD treatment. This drug is based on a lentiviral vector that will deliver the wild type PKLR gene into immature bone marrow cells, leading to the genetic correction of hematopoietic stem cells through gene therapy. Once the genetic defect has been corrected, the cells will be reinfused into the patients, being able to produce cells with the enzyme. As the genetic correction is permanent, patients will be definitely cured.

Furthermore, this designation constitutes the second Orphan Drug obtained by the Division of Hematopoietic Innovative Therapies of the CIEMAT/CIBERER/IIS-FJD (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas-Centro de Investigación Biomédica en Red de Enfermedades Raras and Instituo de Investigación Sanitaria-Fundación Jiménez Díaz), highlighting the huge contribution to translational progress of these institutions. The successful Orphan Drug designations are a key step forward towards achieving a clinically efficient and safe gene therapy clinical trial opening new potential therapeutic options.


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