The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which as no cure to date. This disease causes an aortic aneurysm (an abnormal dilatation of the aorta) and affects about 7 in 100,000 people in the European Union. Drugs known as orphan drugs are intended to treat such rare conditions that pharmaceutical companies need favourable conditions to market them.
The designation of this orphan drug - widely used until now for the treatment of gout - is a significant advance in research into new treatments for this serious minority disease that mainly affects the vascular component of the body. The designation does not establish the drug as safe or effective, it only indicates that the drug meets the European Commission's definition of orphan drug. Therefore, it is necessary to continue working on the corresponding clinical studies to obtain its authorization.
A research team from the University of Barcelona, the August Pi i Sunyer Biomedical Research Institute (IDIBAPS) and the Networking Biomedical Research Centre on Rare Diseases (CIBERER) has studied the possible application of this drug for the preventive and palliative treatment of the aortic aneurysm that is typical of Marfan syndrome. So far, researchers have conducted trials on animal models of the disease and international clinical trials in patients are expected to begin in the future.
This study has been carried out by the group led by Gustavo Egea, professor at the UB's Faculty of Medicine and Health Sciences and researcher at IDIBAPS, in close collaboration with Isaac Rodríguez-Rovira, postdoctoral researcher at the UB, and Victoria Campuzano, researcher at CIBERER.
About Marfan syndrome
Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1, a protein essential for the structural integrity of many tissues in the body as it is part of the elastic fibres. The disease can manifest itself clinically in a variable manner between patients - more than 3,000 different mutations have been described - even within the same family with the same genetic variant.
This chronically debilitating disease leads to severe vascular disturbances, from abnormal dilatation of the aorta (aneurysm) to dissection and rupture. Other conditions, although not as fatal as aortic aneurysms, are respiratory (pneumothorax and sleep apnoea), ocular (blindness due to lens displacement) and musculoskeletal (muscle and joint flaccidity and elevated stature).
