Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva
| Autor: | Umesh Masharani, Edward C. Hsiao, Kelly L. Wentworth |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_treatment
Disease Palovarotene Bioinformatics 030226 pharmacology & pharmacy Bone and Bones 03 medical and health sciences 0302 clinical medicine Stilbenes Animals Humans Medicine Pharmacology (medical) 030212 general & internal medicine Receptor Sirolimus Pharmacology business.industry Ossification Heterotopic Review‐themed Issue Immunosuppression medicine.disease Activating mutation Treatment Outcome Myositis Ossificans Drug development Fibrodysplasia ossificans progressiva Pyrazoles Heterotopic ossification Bone Remodeling business Signal Transduction |
| Zdroj: | Br J Clin Pharmacol |
| ISSN: | 1365-2125 0306-5251 |
| Popis: | Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease in which heterotopic bone forms in muscle and soft tissue, leading to joint dysfunction and significant disability. FOP is progressive and many patients are wheelchair-bound by the 3rd decade of life. FOP is caused by an activating mutation in the ACVR1 gene, which encodes the activin A Type 1 receptor. Aberrant signalling through this receptor leads to abnormal activation of the pSMAD 1/5/8 pathway and triggers the formation of bone outside of the skeleton. There is no curative therapy for FOP; however, exciting advances in novel therapies have developed recently. Here, we review the clinical and translational pharmacology of three drugs that are currently in clinical trials (palovarotene, REGN 2477 and rapamycin) as well as other emerging treatment strategies for FOP. |
| Databáze: | OpenAIRE |
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