Diagnosis, Prognosis, Prevention and/or Treatment of Heterotopic Ossification: Patent No. EP25382052.6
Progressive Osseous Heteroplasia (POH) is an ultra-rare genetic disease characterized by heterotopic ossification (HO) in the skin, subcutaneous fat, and skeletal muscle. Most patients develop ectopic ossifications before the 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 mainly caused by heterozygous inactivating mutations in GNAS. This gene regulates several signaling pathways essential for bone development, and its inactivation reduces cyclic AMP production, promoting aberrant osteoblast differentiation.
Due to its low incidence, there is a scarcity of samples and suitable cellular models to study the disease. The present invention aims to provide a reliable method for the diagnosis, prognosis, prevention, and treatment of HO.
Description of the Patent and Applicability:
- New method for the diagnosis, prognosis, prevention, and/or treatment of heterotopic ossification (HO).
- New method for promoting osteogenesis, promoting chondrogenesis, and/or inhibiting adipogenesis.
Current status of the patent
The patent license application period is currently open for those interested in its commercial exploitation. The current ownership of the patent belongs to the Galician Health Service (Servizo Galego de Saúde, SERGAS) and the Public Galician Foundation of the Santiago de Compostela Health Research Institute (FIDIS).
Contact
Mabel Sampedro Parada
mabel.sampedro.parada@sergas.es
+34 981 951 195 (ext. 251 195)