collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), announced they were developing a clinical trial using HPbCD for Niemann–Pick type C1 patients. A clinical trial conducted by Vtesse, LLC began in January 2013, and was completed in March 2017. On April 26, 2013, the European Medicines Agency granted International Niemann–Pick Disease Alliance (INPDA), the United Kingdom, orphan designation for HPbCD for the treatment of Niemann–Pick disease, type C. Gene therapy Gene therapy is being used clinically to treat genetic diseases including haemophilia and spinal muscular atrophy. It has been used preclinically, in a mouse model of Niemann–Pick type C, using an adeno-associated virus derived viral vector has been shown to extend lifespan following injection into the lateral ventricles of the neonatal brain. In a separate proof-of-concept study a similar vector, but with a modified capsid, was injected intravenously into Niemann–Pick type C mice at around four weeks of age; this resulted in extended lifespan and improved weight gain. Gene therapy has also been used preclinically in a mouse model of Niemann–Pick type A. Injection into the cisterna magna at seven weeks of age prevented motor and memory impairment and neuronal cell death. See also Lysosomal storage disease Niemann–Pick disease, type C Gaucher's disease Medical genetics of Ashkenazi Jews References External links Genetics Home Reference on Niemann–Pick Disease This article incorporates public domain text from The U.S. National Library of Medicine Autosomal recessive disorders Rare diseases Lipid storage disorders Ashkenazi Jews topics Skin conditions resulting from errors in metabolism Neurodegenerative disorders Congenital disorders