10:34am Thursday 21 September 2017

First gene therapy treatment in Spain for a rare metabolic disease

This biotechnological company is coordinating phase I clinical trials, in collaboration with the Applied Medical Research Centre (CIMA), part of the Universidad Hospital of Navarra, and the 12th of October Hospital in Madrid.

The aim of this research is to evaluate the safety of and obtain preliminary data about the efficacy of a gene therapy product (the rAAV2/5-PBGD vector). This first stage is to last a year and will be undertaken with eight patients, who will receive doses in stages to test tolerance to the treatment. If the results are positive, stage II will be initiated with a larger group of patients. It is estimated that the therapy could be available within approximately five years.

Dr. Jesús Prieto, scientific director of the Area of GeneTherapy and Hepatology at CIMA and lead researcher in the study, pointed out that “the clinical trials, arising from translational research, were carried out because of the need to find a suitable medical solution to acute intermittent porphyria, a devastating rare disease that currently lacks a cure”. According to Dr. Rafael Enríquez de Salamanca from the 12th of October University Hospital and expert in the treatment of these patients, “these clinical trials for treating a minority disease open the door for the application of gene therapy in treating many other, more common, diseases”.

The Dutch biopharmaceutical company, uniQure, holds the worldwide exclusive rights for the rAAV2/5-PBGD vector and is responsible for the subsequent stages in the clinical development of the product. Their Vice-President, Carlos Camozzi, stated that “in the XXI century, gene therapy has been validated by the European Medication Agency as a safe and effective therapeutic option for hereditary diseases. These gene therapy clinical trials with patients suffering from acute intermittent porphyria are the result of the joint efforts by the academy and industry within the AIPGENE consortium”.

About acute intermittent porphyria

Porphyrins are a group of metabolic diseases characterised by a dysfunction in the synthesis of haem, a molecule involved in life processes such as cell respiration and the detoxification of substances. Acute intermittent porphyria affects approximately 5 in every 100,000 inhabitants, and manifests itself as acute crises, with abdominal pains, nauseas, vomiting, constipation and tachyicardia. There is currently no treatment for this disease which, at times, can be mortal due to serious neurological complications.

Medikuntza, Osasuna

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