El CIMA de la Universidad de Navarra y un centro científico holandés hallan un tratamiento para la porfiria
The CIMA of the University of Navarra and a Dutch scientific center find a treatment for porphyria.
New gene therapy, still in preclinical phase, could combat this inherited disease that increases risk of liver cancer and kidney failure
The research center Médica Aplicada (CIMA) of the University of Navarra and Amsterdam Molecular Therapeutics BV (AMT) have demonstrated the preclinical efficacy of a treatment for acute intermittent porphyria. Once the preclinical, toxicological and clinical phases have been overcome, it could put a permanent end to the disease.
The research on this hereditary disease has been developed in the area of Gene Therapy and Hepatology of CIMA. position Dr. Jesús Prieto and the scientists Gloria González Aseguinolaza, Astrid Pañeda, Rubén Hernández Alcoceba and Antonio Fontanellas coordinated the project.
The symptoms of this disease appear when there are anomalies in the production of heme, a basic substance for the synthesis of vital proteins such as hemoglobin, myoglobin and cytochromes," explains Jesús Prieto.
Among the problems it causes, which have been incurable until now, are neuropsychiatric and visceral complaints and severe abdominal pain. In addition, acute attacks of porphyria can be fatal "if they cause severe neurological complications".
Affected individuals suffer symptoms in intermittent, more or less long-lasting periods throughout their lives. They sometimes appear at puberty and more frequently in adulthood, with a higher incidence among women. "Some drugs, such as barbiturates, tranquilizers or sedatives, can trigger the disease; also slimming diets, hormonal disorders, tobacco, alcohol, infections or emotional and physical stress," adds the scientist. It also increases the risk of liver cancer and kidney failure.
The research against this ailment has received financial support from various entities; among others, the Inocente and Mutua Madrileña Foundations, as well as the companies that finance the CIMA of the University of Navarra.
After proving its efficacy in preclinical trials, CIMA and AMT have obtained exclusive rights to synthesize and develop the drugs. To this end, the clinical phase is expected to start in 2008 and the treatment will be available to the public in 2010. available .