AIPGENE

Augmenting PBGD expression in the liver as a Novel Gene therapy for Acute Intermittent Porphyria

Coordinatore	FUNDACION PARA LA INVESTIGACION MEDICA APLICADA FIMA    more  Organization address address: AVENIDA DE PIO XII 55 city: PAMPLONA postcode: 31008 contact info Titolo: Dr. Nome: Andrew Cognome: Solomon Email: send email Telefono: +34 948194700 Fax: +34 948194718
Nazionalità Coordinatore	Spain [ES]
Totale costo	4˙347˙949 €
EC contributo	3˙308˙154 €
Programma	FP7-HEALTH Specific Programme "Cooperation": Health
Code Call	FP7-HEALTH-2010-single-stage
Funding Scheme	CP-FP
Anno di inizio	2011
Periodo (anno-mese-giorno)	2011-01-01   -   2014-10-31

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	FUNDACION PARA LA INVESTIGACION MEDICA APLICADA FIMA  Organization address address: AVENIDA DE PIO XII 55 city: PAMPLONA postcode: 31008 contact info Titolo: Dr. Nome: Andrew Cognome: Solomon Email: send email Telefono: +34 948194700 Fax: +34 948194718	ES (PAMPLONA)	coordinator	822˙842.00
2	AMSTERDAM MOLECULAR THERAPEUTICS (AMT) BV  Organization address address: Meibergdreef 61 city: AMSTERDAM postcode: 1105BA contact info Titolo: Dr. Nome: Tamara Cognome: Tugal Email: send email Telefono: 310206000000 Fax: 310206000000	NL (AMSTERDAM)	participant	1˙092˙012.00
3	UNIVERSIDAD DE NAVARRA  Organization address address: CAMPUS UNIVERSITARIO EDIFICIO CENTRAL city: PAMPLONA postcode: 31080 contact info Titolo: Dr. Nome: Iñigo Cognome: Uriarte-Pueyo Email: send email Telefono: +34 948176748 Fax: +34 948175223	ES (PAMPLONA)	participant	508˙800.00
4	"DIGNA BIOTECH, S.L"  Organization address address: AVENIDA PIO XII 22 OFFICINA 2 city: PAMPLONA postcode: 31008 contact info Titolo: Dr. Nome: Astrid Cognome: Pañeda Email: send email Telefono: +34 91 1852510 Fax: +34 91 1852519	ES (PAMPLONA)	participant	448˙000.00
5	DEUTSCHES KREBSFORSCHUNGSZENTRUM  Organization address address: Im Neuenheimer Feld 280 city: HEIDELBERG postcode: 69120 contact info Titolo: Ms. Nome: Bettina Cognome: Crispin Email: send email Telefono: 496221000000 Fax: 496221000000	DE (HEIDELBERG)	participant	321˙100.00
6	STOCKHOLMS LAENS LANDSTING  Organization address address: Hantverkargatan 45 city: STOCKHOLM postcode: 104 22 contact info Titolo: Ms. Nome: Veronica Cognome: åkers Email: send email Telefono: +46 8 51776480 Fax: +46 8 319567	SE (STOCKHOLM)	participant	70˙000.00
7	SERVICIO MADRILENO DE SALUD  Organization address address: PLAZA CARLOS TRIAS BERTRAN 7 city: MADRID postcode: 28020 contact info Titolo: Ms. Nome: Maria Del Mar Cognome: López Martín Email: send email Telefono: +34 91 4699873 Fax: +34 91 4699873	ES (MADRID)	participant	45˙400.00

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 Obiettivo del progetto (Objective)

'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.'

Introduzione (Teaser)

Despite the challenges, gene therapy remains a viable treatment alternative for severe genetic disorders. An EU-funded consortium is giving patients suffering from acute intermittent porphyria (AIP) a therapeutic option based on the delivery of a functional gene into the liver.