Fibrodysplasia Ossificans Progressiva

Agrawal, Shruti; Ghosh, Parashar; Aggarwal, Amita; Misra, Ramnath

doi:10.1097/rhu.0b013e31812e00db

Cited by 1 publication

(2 citation statements)

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“…Thumb malformations, caused by either hypoplasia or dysplasia, are commonly observed. Scoliosis is prevalent in FOP and can worsen rapidly due to paravertebral lesions, exacerbating thoracic insufficiency syndrome [3,9,14]. Developmental hip dysplasia affects approximately 60% of individuals experiencing acute hip pain.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…FOP affects both the developmental process and postnatal aspects, with congenital bilateral hallux valgus deformities being a hallmark of this condition [2]. The musculoskeletal characteristics of FOP are linked to dysregulated chondrogenesis, and the condition is characterized by heterotopic ossification (HO), which can occur spontaneously or as a result of trauma [3]. Flare-ups and painful soft tissue swelling often precede localized HO [4].…”

Section: Introductionmentioning

confidence: 99%

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Novel Therapeutic Targets for Fibrodysplasia Ossificans Progressiva: Emerging Strategies and Future Directions

Shaikh,

Khan,

Kumari

et al. 2023

Cureus

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Fibrodysplasia ossificans progressiva (FOP), also known as Stoneman syndrome, is a rare genetic disorder characterized by abnormal bone development caused by activating mutations of the ACVR1 gene. FOP affects both the developmental and postnatal stages, resulting in musculoskeletal abnormalities and heterotopic ossification. Current treatment options for FOP are limited, emphasizing the need for innovative therapeutic approaches. Challenges in the development of management criteria for FOP include difficulties in recruitment due to the rarity of FOP, disease variability, the absence of reliable biomarkers, and ethical considerations regarding placebo-controlled trials. This narrative review provides an overview of the disease and explores emerging strategies for FOP treatment. Gene therapy, particularly the CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-associated protein 9) system, holds promise in treating FOP by specifically targeting the ACVR1 gene mutation. Another gene therapy approach being investigated is RNA interference, which aims to silence the mutant ACVR1 gene. Small molecule inhibitors targeting glycogen synthase kinase-3β and modulation of the bone morphogenetic protein signaling pathway are also being explored as potential therapies for FOP. Stem cell-based approaches, such as mesenchymal stem cells and induced pluripotent stem cells, show potential in tissue regeneration and inhibiting abnormal bone formation in FOP. Immunotherapy and nanoparticle delivery systems provide alternative avenues for FOP treatment.

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Section: Clinical Presentationmentioning

confidence: 99%