Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disease with a prevalence of 1 in 1.5-2 million people. The disease is caused by a mutation in the ACVR1 gene, which leads to impaired intracellular signaling and increased formation of extraskeletal bone tissue. The predominant mutation is 617GA (R206H), causing more than 95% of all cases of the disease. In addition to heterotopic ossification, patients may experience other symptoms associated with other variants of the receptor structure. Bone progenitor cells have not yet been identified, but the pathogenesis of the disease is likely due to the interaction of multiple cell types. The lack of effective treatment requires the study of new therapeutic targets. In view of this, approaches to treating the disease continue to be developed, some drugs are in the clinical trials stage. Gene therapy, which has proven effective in a number of hereditary diseases, may be a potentially effective method of correcting the disease.
Kopylov et al. (Wed,) studied this question.