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Review Article Volume 13 Issue 1
A succinct review on fibrodysplasia ossificans progressiva - rare disease/orphan disease
Sridivya Raparla
Received: February 12, 2026 | Published: February 26, 2026
Citation: Raparla S. A succinct review on fibrodysplasia ossificans progressiva - rare disease/orphan disease. J Diabetes Metab Disord Control. 2026;13(1):18-20. DOI: 10.15406/jdmdc.2026.13.00307
Abstract
Rare (orphan) diseases are life threatening or chronically debilitating conditions that affect a small proportion of the population. Despite their individual rarity, over 7000 such disorders collectively affect hundreds of millions worldwide. Most are genetic, severe and associated with delayed diagnosis and limited therapeutic options. Small patient populations and reduced commercial incentives often hinder drug development, creating substantial unmet medical needs. Addressing rare diseases is therefore both a public health priority and a scientific opportunity as studying them frequently uncovers fundamental biological pathways relevant to more common conditions. Fibrodysplasia ossificans progressiva (FOP) exemplifies these challenges. The present write up focuses on FOP, which is a progressive genetic disorder caused by mutations in the ACVR1 gene leading to heterotopic ossification in which soft tissues progressively transform into bone. This disabling process results in cumulative immobility and severe complications. At present, the treatment is mostly supportive, with lack of definitive cure. The urgent need for effective therapies underscores the importance of advancing targeted molecular strategies and innovative translational research to develop disease modifying interventions for FOP.
Keywords: Rare/orphan disease, FOP, genetic disorder, ossification, ACVR1 gene
©2026 Raparla. This is an open access article distributed under the terms of the, which permits unrestricted use, distribution, and build upon your work non-commercially.