Digna Biotech has launched a clinical essay to treat acute intermittent porphyria, a rare disease Genetics that can cause significant neurological damage. This biotech business is coordinating a phase I clinical essay , at partnership with the CIMAthe Clínica Universidad de Navarra and the Hospital 12 de Octubre in Madrid. The study is part of the European consortium AIPGENEconsortium, which also includes the Dutch business uniQure and research centers in Germany and Sweden.

The goal of this study is to evaluate the safety and obtain data preliminary efficacy of a gene therapy product (the rAAV2/5-PBGD vector), the result of the work developed by Dr. Antonio Fontanellas at CIMA. Dr. Jesús Prieto, Dr. Delia D'Avola and Dr. Bruno Sangro, from the Clínica Universidad de Navarra, and Dr. Rafael Enríquez de Salamanca, from the Hospital 12 de Octubre, are participating in the essay project. This first phase will last one year and will be carried out with eight patients, who will receive escalating doses to test tolerance to the treatment. If the results are positive, phase II will be initiated in a larger number of patients issue . It is estimated that the therapy could be available at available in approximately five years.

Dr. Jesús Prieto, scientific director of the area of Gene Therapy and Hepatology of the research center Applied Medicine (CIMA) and main researcher of the study, has pointed out that "this clinical essay , result of the translational research , has been motivated by the need to find an adequate medical solution for acute intermittent porphyria, a devastating rare disease that lacks a curative treatment. According to Dr. Rafael Enriquez de Salamanca, of the Hospital Universitario 12 de Octubre, an expert in the treatment of these patients, "this clinical essay , to treat a minority disease, opens a way to apply gene therapy in the treatment of many other more common diseases".

The Dutch biopharmaceutical company uniQure holds the exclusive worldwide rights to the rAAV2/5-PBGD vector and is manager for the next phases of the product's clinical development development . Its Vice President Carlos Camozzi assures that "in this 21st century, gene therapy has been validated by the European Medicines Agency as a safe and effective therapeutic option for inherited diseases. This essay of clinical gene therapy in patients with acute intermittent porphyria is the result of the joint efforts of academia and industry within the AIPGENE consortium".

About acute intermittent porphyria

The porphyrias are a group of metabolic diseases characterized by a dysfunction in the synthesis of heme, a molecule involved in vital processes such as cellular respiration and detoxification of substances. Acute intermittent porphyria affects approximately 5 out of every 100,000 inhabitants, and manifests itself in the form of acute crises, with abdominal pain, nausea, vomiting, constipation and tachycardia. There is currently no treatment for this disease, which can sometimes be fatal due to severe neurological complications.

About the consortium

This clinical essay is being carried out thanks to the AIPGENE consortium, an EU-funded project of partnership for the clinical development of the rAAV2/5-PBGD vector for the treatment of acute intermittent porphyria. Coordinated by Drs. Gloria Gonzalez-Aseguinolaza, Antonio Fontanellas, and Andrew Solomon, AIPGENE is composed of different groups participating in the clinical and preclinical program for the selection of the best gene therapy vector for therapeutic application in this disease. The AIPGNE consortium includes CIMA and Clínica Universidad de Navarra (Pamplona); DIGNA Biotech (Madrid); UniQure (Amsterdam); Hospital 12 de Octubre (Madrid); Karolinska Institutet (Stockholm) and Nationales Centrum für Tumorerkrankungen (Heidelberg).