Smart4Fabry: Using nanotechnology to combat Fabry disease

The HEALTH Institute of JOANNEUM RESEARCH is a research partner in the EU project Smart4Fabry. The aim is to develop the basis for a new drug to treat the rare metabolic Fabry disease – a hereditary disease in which organs are damaged because certain substances cannot be broken down in the body.

Fabry disease is a rare inherited disorder that affects one in 40,000 people. It belongs to the group of lysosomal storage diseases for which there is currently no definitive cure. Without treatment, it progresses steadily. Those affected lack an enzyme that is necessary for the breakdown of waste products in the cells. 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 drug formulations based on nanocapsules

Until now, Fabry disease has been treated with enzyme replacement therapy: Sufferers receive intravenous infusions with 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 brings the enzyme into the body packaged in nanocapsules. This allows the active ingredient to circulate in the blood for longer, to be distributed more effectively in the tissue and to exert its effect over a longer period of time.

The role of the HEALTH Institute

Researchers at the HEALTH Institute have compared different nano-formulations in studies, which on the one hand are supposed to ensure a longer retention time in the blood and thus better absorption in the tissue. On the other hand, research was conducted into the extent to which it is possible to transport the active substance across the blood-brain barrier into the brain. For this purpose, drug-loaded nanocapsules 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 has been shown to remain in the blood for longer, but a better uptake in the brain has not yet been achieved.

What is the next step?

The tests carried out by the HEALTH Institute on the new drug formulation serve as the basis for clinical trials – i.e. testing on a small number of healthy volunteers. Negotiations with pharmaceutical companies are underway in this regard.

Further information:

• Open microperfusion: https://www.joanneum.at/
• EU project Smart4Fabry: https://smart4fabry.eu/

JOANNEUM RESEARCH Forschungsgesellschaft mbH develops solutions and technologies for business and industry in a broad range of sectors and conducts cutting-edge research at an international level. Well embedded in the national and international innovation network, the researchers develop innovations in the three thematic areas of information and production technologies, human technology and medicine, and society and sustainability.

HEALTH – Institute for Biomedical Research and Technologies

HEALTH sees itself as a link between basic medical research and industrial application and offers interdisciplinary total solutions as R&D services for the pharmaceutical and medtech industries. In a close alliance with the Medical University of Graz, we transform ideas and technologies from medicine, pharmaceutical science and health services research into marketable products and services with around 60 technical and scientific experts.

Contact:

Thomas BIRNGRUBER, Institute HEALTH
thomas.birngruber@joanneum.at
www.joanneum.at/health