The research on this hereditary disease has been developed in the Area of Genetic Therapy and Hepatology of the CIMA. Dr. Jesús Prieto coordinated the research, which was carried out by scientists Gloria González Aseguinolaza, Astrid Pañeda, Rubén Hernández Alcoceba and Antonio Fontanellas. 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 cytochrome.
Among the problems that this disease causes, which until now have been incurable, are included internal neuropsychological disturbances and severe stomach pains. As well, acute attacks of porphyria can be fatal if they cause grave neurological complications.
Persons affected will intermittently suffer from the symptoms of porphyria throughout their entire life. Upon occasion, they appear in adolescence and more frequently in adulthood, with greater occurrence in women. Some medicines, such as barbiturates, tranquilizers and sedatives, can trigger the disease; as well as diets, hormonal irregularities, tobacco, alcohol, infections or emotional and physical stress.
After testing the effectiveness of the treatment, the CIMA and the AMT have obtained exclusive rights to synthesize and develop the medications. Currently, the clinical phase is scheduled to begin in 2008 and the treatments should be available to the public in 2010.
Egoitz Etxebeste | basqueresearch
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