Allopurinol Recognized as the First Orphan Drug for Marfan Syndrome Treatment

The European Medicines Agency (EMA) has officially designated allopurinol as the inaugural orphan drug for the treatment of Marfan syndrome, a rare genetic connective tissue disorder with no current cure. Marfan syndrome affects approximately 7 in 100,000 individuals within the European Union and can lead to life-threatening complications such as aortic aneurysm, which involves abnormal dilation of the thoracic aorta.

Historically used to manage gout, allopurinol is now being explored for its potential to address the vascular issues associated with Marfan syndrome. Its designation as an orphan drug by the EMA highlights its promise in this new application, although this status does not yet confirm safety or efficacy. Further clinical trials are required to assess its therapeutic benefits fully.

A collaborative research effort involving the University of Barcelona, IDIBAPS, and CIBERER is investigating allopurinol's use in preventing and mitigating aortic aneurysms—a common complication in Marfan patients—through studies on animal models and planned human trials.

Marfan syndrome stems from mutations in the FBN1 gene, which impairs fibrillin-1, a protein vital for the elasticity and strength of connective tissues. The disease affects the cardiovascular system, as well as skeletal and ocular health, leading to symptoms such as elongated limbs, lens dislocation, and skeletal abnormalities. Its vascular complications, particularly aortic aneurysms and dissections, are among the most serious threats to patient life.

The repositioning of allopurinol, a well-established and safe medication, as a potential treatment for vascular manifestations of Marfan syndrome represents a significant advance. Its antioxidant properties could slow or prevent the progression of aneurysms, reducing the need for risky surgeries. Currently, treatments like beta-blockers and angiotensin receptor blockers are used to manage symptoms but do not cure the disease.

The EMA's orphan drug designation offers several benefits, including market exclusivity for ten years, reduced development costs, and access to scientific guidance and funding opportunities—factors that can facilitate the development of new therapies for low-prevalence diseases. This initiative aligns with broader efforts by CIBER and other institutions to promote treatments for rare diseases, including previous projects targeting cystinuria and other genetic disorders.

More information on this development can be found via the EMA's official website.