Objetivo Acute intermittent porphyria (AIP) is a rare genetic disease in which mutations in the porphobilinogen deaminase (PBGD) gene produce insufficient activity of a protein necessary for heme synthesis. This leads to an accumulation of toxic intermediates resulting in a wide variety of problems including acute, severe abdominal pains, psychiatric and neurological disorders, and muscular weakness. Acute porphyric attacks can be life-threatening and the long-term consequences include irreversible nerve damage, liver cancer and kidney failure. AIP affects 1/10,000 people in the EU and the therapies currently available do not prevent the symptoms or consequences of acute porphyric attacks. The only curative therapy is liver transplantation and thus, new curative options are clearly needed. In 2009, the European Medicines Agency granted Orphan Drug Designation to AAV5-AAT-PBGD for the treatment of AIP. AAV is a replication-incompetent virus that has been modified to deliver genes or genetic material into human tissues or cells. AAV5-AAT-PBGD acts by delivering the PBGD expression cassette directly into hepatocytes. In heterozygous AIP patient that show 50% of the normal activity the additional PBGD activity will be sufficient to prevent the accumulation of toxic metabolites and thus, to prevent porphyric attacks. the aim of this project is the clinical development of the orphan drug AAV-AAT-PBGD for use to treat AIP. The project will be performed in three different phases. In the first phase, we will develop a GMP-compliant process to produce sufficient AAV5-AAT-PBGD for clinical trials, and we will constitute the largest possible cohorts to improve the follow-up of patients and determine the clinical criteria to select patients for gene therapy. In the second phase, the safety and efficacy of AAV5-AAT-PBGD will be explored in a dose escalation clinical phase I/II trial. Ámbito científico medical and health sciencesclinical medicineoncologyliver cancermedical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesmicrobiologyvirologymedical and health sciencesclinical medicinetransplantationmedical and health sciencesbasic medicineneurology Programa(s) FP7-HEALTH - Specific Programme "Cooperation": Health Tema(s) HEALTH.2010.2.4.4-1 - Clinical development of substances with a clear potential as orphan drugs. FP7-HEALTH-2010-single-stage Convocatoria de propuestas FP7-HEALTH-2010-single-stage Consulte otros proyectos de esta convocatoria Régimen de financiación CP-FP - Small or medium-scale focused research project Coordinador FUNDACION PARA LA INVESTIGACION MEDICA APLICADA FIMA Aportación de la UE € 822 842,00 Dirección AVENIDA DE PIO XII 55 31008 Pamplona España Ver en el mapa Región Noreste Comunidad Foral de Navarra Navarra Tipo de actividad Research Organisations Contacto administrativo Andrew Solomon (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos Participantes (6) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo AMSTERDAM MOLECULAR THERAPEUTICS (AMT) BV Países Bajos Aportación de la UE € 1 092 012,00 Dirección Meibergdreef 61 1105BA AMSTERDAM Ver en el mapa Tipo de actividad Private for-profit entities (excluding Higher or Secondary Education Establishments) Contacto administrativo Tamara Tugal (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos UNIVERSIDAD DE NAVARRA España Aportación de la UE € 508 800,00 Dirección CAMPUS UNIVERSITARIO EDIFICIO CENTRAL 31080 Pamplona Ver en el mapa Región Noreste Comunidad Foral de Navarra Navarra Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Iñigo Uriarte-Pueyo (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos REGION STOCKHOLM Suecia Aportación de la UE € 70 000,00 Dirección HANTVERKARGATAN 45 104 22 Stockholm Ver en el mapa Región Östra Sverige Stockholm Stockholms län Tipo de actividad Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Contacto administrativo Veronica åkers (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos DEUTSCHES KREBSFORSCHUNGSZENTRUM HEIDELBERG Alemania Aportación de la UE € 321 100,00 Dirección IM NEUENHEIMER FELD 280 69120 Heidelberg Ver en el mapa Región Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis Tipo de actividad Research Organisations Contacto administrativo Bettina Crispin (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos DIGNA BIOTECH, S.L España Aportación de la UE € 448 000,00 Dirección AVENIDA PIO XII 22 OFFICINA 2 31008 PAMPLONA Ver en el mapa Tipo de actividad Private for-profit entities (excluding Higher or Secondary Education Establishments) Contacto administrativo Astrid Pañeda (Dr.) Enlaces Contactar con la organización Opens in new window Coste total Sin datos SERVICIO MADRILENO DE SALUD España Aportación de la UE € 45 400,00 Dirección Paseo De la Castellana, 280 28046 MADRID Ver en el mapa Región Comunidad de Madrid Comunidad de Madrid Madrid Tipo de actividad Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Contacto administrativo Maria Del Mar López Martín (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos