Extension of rare disease therapeutic options
A therapy with miglustat, 2-hydroxypropyl-beta-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.
Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a novel therapeutic cocktail for Niemann-Pick disease. Promising preliminary data were obtained in a mouse model, and published in Lipids in Health and Disease.