The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona) located at PCB. The long-term goal of the project is to achieve an injectable frataxin treatment able to reach the brain. Frataxin is the protein that is reduced in those affected by this rare and degenerative disease, which has no cure.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013, it has been developing another two projects into Friedrich’s Ataxia. In addition to Ernest Giralt, the team comprises the scientists Meritxell Teixidó and Macarena Sánchez. 

The long-term goal of the project is to develop a frataxin therapy –ike the injection of insulin for diabetics– that reaches the brain—, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.  “Our peptide shuttles can cross the blood-brain barrier, they reach the central nervous system, and they have not showed signs of toxicity in preliminary studies to date. The challenge in the coming months is to attach frataxin to the shuttles in order to transport the drug across the blood-brain barrier and to test their capacity in cell models,” explains Meritxell Teixidó, Associate Researcher at IRB Barcelona and head of this research line.

A hereditary degenerative disease 

Friedreich’s Ataxia is a hereditary degenerative disease that causes progressive lesions in the nervous system, impairing the coordination of movement and causing muscle weakness, speech problems, and heart conditions. This disease normally appears between the ages of 5 and 25.

“Unfortunately, there are no efficient treatments for the central nervous system for this disease or for others such as Alzheimer’s and Parkinson’s. Getting drugs into the brain continues to be a challenge, but we are hopeful that a cure will eventually be discovered. We believe that the peptide shuttles developed by researchers at IRB Barcelona have enormous potential, although we are aware of the many obstacles to overcome along the way. We consider these molecules to be a good starting point,” say Mari Luz González, and Teresa Gilabert, spokespeople of the associations Babel Family and ASOGAF, respectively.

Two people in every 100,000 are affected by Friedreich’s Ataxia, and this disease hits only those of European origin (Caucasians). Spain registers a higher incidence, with an estimated 4.6 cases per 100,000 population. The disease is caused by a defect in a gene, namely frataxin, which results in reduced levels of this protein in the body, particularly affecting the brain, spinal cord and muscles.
 

• For further information: IRB Barcelona website[+]