Apart from the activities conducted by Agios Pharmaceuticals to develop a drug treatment for PKD, alternative strategies are also being explored in the field. One of these alternative ways is gene therapy. Gene therapy basically involves correction of the defect at the genetic level in the right cells (hematopoietic stem cells). This has the potential of curing the patient with a hematological disorder, such as PKD. This sounds simple, but in fact it is technically challenging. Nevertheless, a lot of progress has been made over the years for a number of hematological diseases such as sickle cell anemia and thalassemia.
Dr. Jose Carlos Segovia is a Spanish investigator who has focused his research on developing methods to cure PKD by gene therapy. His approach recently received the Orphan Drug designation for the treatment of PKD by the European Community (EU/3/14/1130). This means that his approach is ready for clinical trial. Together with Dr. Segovia and many other European clinicians and researchers in the field of PKD thet have formed a EU consortium.
Currently, the researchers are writing a European grant proposal to raise funds in order to be able to carry out a clinical trial. In addition, this grant proposal (TITLE: ForGeTPKD: Gene therapy clinical trial for a metabolic red cell disease: Pyruvate Kinase deficiency) involves the identification of new genes involved in PKD, and the way PKD causes disease.
Support from patients with PKD will be of great added value to this grant proposal and, thereby, will increase the chances of obtaining financial support for the trial. We therefore kindly ask you to support this initiative by signing a letter of support.