Fabry disease is a rare hereditary disease in which organs are damaged because certain substances in the body cannot be broken down. 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 Biomedical Tissue Monitoring research group at the Institute HEALTH "The 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 active ingredient formulations based on nanocapsules
Until now, Fabry disease has been treated with enzyme replacement therapy: Sufferers receive intravenous infusions of the genetically modified enzyme GLA (α-galactosidase A). This is an expensive treatment that also has to be repeated frequently. "The approach pursued in the Smart4Fabry project uses a formulation that delivers the enzyme to the body packaged in nanocapsules. This allows the active ingredient to circulate in the blood for longer, be distributed more effectively in the tissue and develop its effect over a longer period of time," says Birngruber.
Researchers at the HEALTH Institute have compared various nanoformulations in studies that are intended to ensure a longer retention time in the blood and thus better absorption in the tissue. On the other hand, they investigated the extent to which it is possible to transport the active ingredient across the blood-brain barrier into the brain. For this purpose, nanocapsules loaded with the active ingredient were linked to receptor proteins. The studies used the cerebral open microperfusion method (cOFM) developed and patented by JOANNEUM RESEARCH. The result: the active ingredient demonstrably remains in the blood longer, but better absorption in the brain has not yet been achieved.
What happens next?
The tests carried out by the HEALTH Institute on the new active ingredient formulation serve as the basis for clinical trials - i.e. testing on a small number of healthy test subjects. Negotiations with pharmaceutical companies are ongoing in this regard.
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