This technology includes the identification and use of novel ACRV1/ALK2 inhibitors for the treatment of fibrodysplasia ossificans progressiva (FOP), an autosomal-dominant rare disease that affects one person in every 1-2 million. FOP is characterized by malformation of the great (big) toes during embryonic development and by progressive heterotopic endochondral ossification (HEO) postnatally, which leads to the formation of a second skeleton of heterotopic bone. Individuals with the classical features of FOP have the identical heterozygous activating mutation (R206H) in the gene encoding ACRV1 (also known as ALK2), a BMP type 1 receptor.
Further clinical work could establish the novel ACRV1/ALK2 inhibitors for the treatment of fibrodysplasia ossificans progressiva (FOP). Potent ALK2 inhibitors could conceivably be used prophylactic, acute or chronic therapy for patients with FOP as well as disorders associated with altered BMP signaling.
There are no effective treatments for fibrodysplasia ossificans progressiva (FOP).