Diagnosis, prognosis, prevention and/or treatment of heterotopic ossification: patent no EP25382052.6

Progressive Osseous Heteroplasia (POH) is an ultra-rare genetic disorder characterized by heterotopic ossification (HO) in the skin, subcutaneous fat, and skeletal muscle. Most patients develop ectopic ossifications before their first year of life, leading to chronic pain and joint ankylosis, sometimes requiring surgery or amputations during childhood or adolescence. Currently, the only treatment is surgical resection, although HO often recurs.

POH is primarily caused by heterozygous inactivating mutations in GNAS. This gene regulates several essential signaling pathways in bone development, and its inactivation reduces cyclic AMP production, promoting aberrant osteoblast differentiation.

Due to its low incidence, there is a shortage of samples and suitable cellular models for studying the disease. This invention aims to provide a reliable method for diagnosing, predicting, preventing, and treating HO.