Digna Biotech sets the first clinical trial in Spain to treat acute intermittent porphyria, a rare genetic disease that affects the biosynthesis of heme (a component of hemoglobin) and can cause significant neurological damage. This biotechnology company coordinates a phase I clinical trial in collaboration with CIMA, the Clínica Universidad de Navarra and the Hospital 12 de Octubre in Madrid. The study is funded in part by the European Comission´s Seven framework program under the aegis of the European consortium AIPGENE, which also involve the Dutch company uniQure and research centers from Germany and Sweden.

The primary objective of this study is to evaluate the safety of the gene therapy product,rAAV2/5-PBGD vector, in patients with severe AIP. Secondary objective includesThe evaluation of the efficacy. The trial involved doctors Jesús Prieto, Delia D'Avola and Bruno Sangro from the Clínica Universidad de Navarra and Dr. Rafael Enriquez de Salamanca from the Hospital 12 de Octubre. This first phase will last one year and eight patients will be enrolled who will receive a dose escalation of the therapeutic vector to check tolerability. If the results are positive, Phase II will begin in a larger number of patients. It is estimated that the therapy could be available within five years, approximately.

Dr. Jesus Prieto, Director of Hepatology and Gene Therapy Division of the Center for Applied Medical Research (CIMA) of the University of Navarra and principal investigator in the study, said that "this clinical trial is the result of academy-based translational research and has been motivated by the need of developing adequate medical solution for Acute Intermitent Porphyria, a rare devastating condition that lacks curative treatment". According to Rafael Enríquez de Salamanca, an expert in the treatment of patients with AIP from the Hospital Universitario 12 de Octubre, in Madrid (Spain), also participating in the study, "this clinical trial, based on a very minor disease, represents an encouraging avenue to apply gene therapy to treat many other more common diseases".

Carlos Camozzi, Vice President and Chief Medical Officer at uniQure biopharma, in Amsterdam (Neetherlands), company which owns worldwide exclusive rights for rAAV2/5-PBGD and responsible for later phases of clinical development, reported, "in the first steps of the 21st century, Gene Therapy has been validated by the EMA as a safe and effective therapeutic option for inherited diseases. This Gene Therapy clinical trial in AIP patients is the result of paramount joint efforts applied by academic and industry members of the AIPGENE Consortium".

About Acute Intermittent Porphyria

Acute intermittent porphyria is a rare genetic disease where mutations in the porphobilinogen deaminase (PBGD) gene results in insufficient activity of a protein necessary for heme synthesis that is required for the production of haemoglobin. PBDG deficiency produces a wide variety of problems including acute and severe abdominal pain, circulatory disorders and mental disturbances. There is currently no cure for this condition and the disease can be life threatening due to severe neurological complications.

About the Consortium

Behind the clinical trial is the consortium AIPGENE (co-ordinated by Drs Gloria Gonzalez-Aseguinolaza,  Antonio Fontanellas and Andrew Solomon) which is an EU-funded collaborative project for the clinical development of rAAV2/5-PBGD as a therapy for AIP. AIPGENE is composed of different groups involved in the preclinical and clinical program for the selection of the best gene therapy vector with a therapeutic application on this disease: AIPGNE encompasses CIMA (Pamplona); DIGNA Biotech (Madrid); UniQure (Amsterdam); Clinica Universidad Navarra (Pamplona); Hospital 12 Octubre (Madrid); Karolinska Institutet (Stockholm) and Nationales Centrum für Tumorerkrankungen (NCT) (Heidelberg).