Journal
EXPERT OPINION ON ORPHAN DRUGS
Volume 1, Issue 8, Pages 637-649Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1517/21678707.2013.825208
Keywords
bone morphogenetic protein receptors; fibrodysplasia ossificans progressiva; heterotopic endochondral ossification; skeletal metamorphosis
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Funding
- International Fibrodysplasia Ossificans Progressiva (FOP) Association
- Center for Research in FOP & Related Disorders
- Ian Cali Endowment for FOP Research
- Whitney Weldon Endowment for FOP Research
- Isaac & Rose Nassau Professorship of Orthopaedic Molecular Medicine
- Cali-Weldon Professorship for FOP Research
- Rita Allen Foundation
- US National Institutes of Health [NIH R01 AR04196]
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Introduction: Fibrodysplasia ossificans progressiva (FOP) is the most disabling disorder of skeletal metamorphosis in humans and leads to the formation of a second skeleton of heterotopic bone. Presently, there is no effective treatment. Areas covered: In this review, the authors discuss heterozygous activating mutations in Activin receptor A, type I/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that are the genetic cause of FOP and reveal a promising pharmacologic target in the BMP signaling pathway. Despite these germline mutations, episodic disease activation is induced by soft tissue injury and resultant inflammatory triggers that are dependent on responding progenitor cells and a tissue microenvironment that supports heterotopic ossification. Expert opinion: Here, we review opportunities and challenges for the development of effective therapeutics for FOP. There are many potential approaches that may eventually be used to harness FOP. The long-term treatment of FOP is likely to involve not one, but several concomitant approaches that acknowledge molecular mechanisms involved in the induction and progression of the disease.
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