Miglustat is a drug currently under phase 2 clinical trials on patients suffering from cystic fibrosis. Its potential for treating the disease was discovered in 2006 thanks to the work of Frédéric Becq's team at the Institute of Cell Physiology and Biology (CNRS/Université de Poitiers), funded by the associations Vaincre la Mucoviscidose, MucoVie66, La Pierre Le Bigaut and ABCF2.
In new work to be published on 1 August 2009 in the American Journal of Respiratory Cell and Molecular Biology, the researchers show that daily, long-term treatment of human cystic fibrosis cells with low doses of miglustat corrects the main pathological abnormalities. They are therefore extremely hopeful that miglustat will prove effective with patients, and become the first drug able to treat the disease rather than the symptoms.
Cystic fibrosis is a genetic disease, transmitted jointly by both parents, and affects around 6000 people in France. It is caused by the dysfunction of a membrane protein (CFTR), present especially in the epithelial cells in the lungs, which controls exchange of water and mineral salts between the cell and the exterior. On the cell level, the disease manifests itself by the absence of chloride secretion, sodium hyperabsorption, deregulation of calcium homeostasis, and heightened inflammatory response. This results in thickening of the mucus that lines the bronchial tubes and the pancreatic ducts, leading to lung infections and digestive disorders. At the current time, there is no treatment that cures cystic fibrosis. In order to alleviate the symptoms, extremely strict daily treatment is necessary.
In 2006, Frédéric Becq's team at the Institute of Cell Physiology and Biology (CNRS/Université de Poitiers) showed that a drug called miglustat restored the activity of the CFTR protein and could thus temporarily correct the specific phenotype characteristic of cystic fibrosis. Used to treat two rare diseases (Gaucher's disease and Niemann-Pick type C disease), its safety and tolerance had already been assessed, and clinical trials could be rapidly begun in September 2007.