A breakthrough in combating rare genetic disorders

DISCLAIMER: All opinions in this column reflect the views of the author(s), not of EURACTIV Media network.

Europe can lead the way in developing gene therapies to tackle the growing and persistent problem of previously incurable diseases, with huge potential benefits for both patients and industry. Europe needs to promote cross-border research and facilitate access to these new therapies, argues Aurelio Maggio.

Professor Aurelio Maggio is head of the Hematology and Oncology Department at V. Cervello Hospital in Italy. 

"The concept of gene therapy is relatively simple: to identify diseases that result from mutated genes and replace these defective genes with functional “copies” to correct the disorder.

As a researcher and practicing physician, I have undertaken extensive research into innovative treatment options for many rare genetic disorders, including gene therapy solutions for beta-Thalassemia.

Beta-Thalassemia is an inherited and rare blood disorder which affects the level of oxygen and red blood cells. It can cause significant complications, including heart failure, liver problems, bone deformities and cardiovascular illness.

Every year over 100,000 people are born with this disease and 30,000 patients die  owing to the absence of appropriate therapies.

Up until now, no innovative treatments have been found for the management of this disorder and treatment costs, especially in developing countries, remain very high.

Human gene therapy, if successful, could therefore fill a serious gap in threatening the disorder.

After many years of basic and clinical research, human gene therapy for beta-Thalassemia is now finally a concrete hope for patients.

Researchers from the Memorial Sloan-Kettering Cancer Center in New York, in collaboration with the Leonardo Giambrone Foundation in Italy, are conducting a Phase 1 clinical trial applying human gene therapy as a treatment for beta-Thalassemia.

The trial received approval from US regulators in the summer of 2012. I have supported this project for many years, and my hospital, the V. Cervello Hospital in Italy, is contributing to the selection of patients.

While the disorder occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia, in recent years, Thalassemia has become increasingly common in the formerly non-indigenous countries of Northern and Western Europe.

There is hence a growing need for health policy-makers to support pan-European research into optimal patient care, carrier diagnosis, genetic counseling and access to prenatal diagnosis, as well as how to share best and homogeneous practice throughout the region.

My belief is that this trial and other studies in this area in future represent a fundamental step forward not just for individuals with Thalassemia – who can now look towards a definitive cure of this disease – but for all those who envisage the future application of gene therapy for a wide range of disorders.

Our main efforts from now on will focus on transposing this treatment from an experimental to a standard clinical trial, and obtaining the green light from the European Medicines Agency (EMA) for this initiative."

Subscribe to our newsletters