Скачать или смотреть DevelopAKUre, Clinical Development of Nitisinone for Alkaptonuria

DevelopAKUre (Project ID: 304985) was funded by the European Commission FP7 work programme to clinically develop an orphan designated drug, Nitisinone, for the treatment of the rare Mendelian disease, Alkaptonuria (AKU), a genetic deficiency of homogentisic acid dioxygenase, which causes high levels of homogentisic acid (HGA). Oxidation of HGA to a pigment polymer, termed ochronosis, alters connective tissues. This leads to multisystemic damage dominated by premature severe arthritis. Currently, multiple arthroplasty is inevitable since AKU is incurable and there is no effective palliative therapy.

Here we describe our work with AKU patients as we near the end of a clinical trial for the drug and look to the future, considering how our research in this project will lead to new treatments for other diseases.

http://www.developakure.eu