Fabry disease is a rare hereditary disease in which organs are damaged because certain substances cannot be broken down in the body. It affects one in 40,000 people and belongs to the group of lysosomal storage diseases for which there is currently no definitive cure. Without treatment, the disease progresses steadily. "Those affected lack an enzyme that is necessary for the breakdown of waste products in the cells," reports Thomas Birngruber, head of the research group Biomedical Tissue Monitoring at the HEALTH Institute of JOANNEUM RESEARCH. „This metabolic disease leads to deposits in the blood vessels, which subsequently causes changes and damage in various organs, such as the heart, lungs, kidneys or the central nervous system."
New drug formulations based on nanocapsules
Fabry disease is currently treated with enzyme replacement therapy: Patients receive intravenous infusions of the genetically engineered enzyme GLA (α-galactosidase A). This is an expensive treatment that has to be repeated frequently. "The approach taken in the Smart4Fabry project uses a formulation that delivers the enzyme to the body packaged in nanocapsules. This allows the medication to circulate in the blood for longer, be distributed more effectively in the tissue and exert its effect over a longer period of time," says Birngruber.
Researchers at the HEALTH Institute have compared various nanoformulations that are intended to ensure longer retention time in the blood and thus better absorption in the tissue. Experiments measured the amount of medication that can be transported across the blood-brain barrier into the brain. Drug-loaded nanocapsules were linked to receptor proteins and measurements were done by using cerebral open flow microperfusion (cOFM) . The studies used the cerebral open flow microperfusion method (cOFM) – a technology developed and patented by JOANNEUM RESEARCH. The result: The medication remained in the blood for longer, but better uptake in the brain has not yet been achieved.
Where do we go from here?
The tests carried out by the HEALTH Institute on the new formulation serves as the basis for clinical trials - i.e. testing on a small number of healthy probands. Negotiations with pharmaceutical companies are in progress in this regard.