Clinical-pathological correlations in three patients with fibrodysplasia ossificans progressiva

Wentworth, Kelly; Bigay, Katherine; Chan, Tea V.; Ho, Jennifer; Morales, Blanca M.; Connor, Joseph P.; Brooks, Erin G.; Salamat, M. Shahriar; Sánchez, Henry; Wool, Geoffrey D.; Pignolo, Robert J.; Kaplan, Frederick S.; Hsiao, Edward C.

doi:10.1016/j.bone.2017.10.009

Cited by 18 publications

(23 citation statements)

References 23 publications

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“…Tourniquet time and number of blood draw attempts should be minimized, according to the current FOP treatment guidelines. Consultation with clinicians who are familiar with the care of patients with FOP is critical. Respiratory complications: Patients with FOP are at risk of restrictive lung disease because of chest wall HO, congenital malformation of the costovertebral joints and possibly changes in lung physiology . Patients with FOP are also extremely difficult to intubate owing to their cervical spine malformations, jaw involvement and HO .…”

Section: Resultsmentioning

confidence: 99%

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

Hsiao

Rocco

Cali

et al. 2018

Brit J Clinical Pharma

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Clinical trials for orphan diseases are critical for developing effective therapies. One such condition, fibrodysplasia ossificans progressiva (FOP; MIM#135100), is characterized by progressive heterotopic ossification (HO) that leads to severe disability. Individuals with FOP are extremely sensitive to even minor traumatic events. There has been substantial recent interest in clinical trials for novel and urgently‐needed treatments for FOP. The International Clinical Council on FOP (ICC) was established in 2016 to provide consolidated and coordinated advice on the best practices for clinical care and clinical research for individuals who suffer from FOP. The Clinical Trials Committee of the ICC developed a focused list of key considerations that encompass the specific and unique needs of the FOP community – considerations that are endorsed by the entire ICC. These considerations complement established protocols for developing and executing robust clinical trials by providing a foundation for helping to ensure the safety of subjects with FOP in clinical research trials.

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Section: Resultsmentioning

confidence: 99%

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

Hsiao

Rocco

Cali

et al. 2018

Brit J Clinical Pharma

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“…Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the ACVR1/ALK2 gene encoding activin A receptor type I/activin-like kinase 2, which is a bone morphogenetic protein (BMP) type I receptor. Atypical FOP patients also have heterozygous ACVR1 missense mutations in conserved amino acids (24). A diagnosis of FOP is made through clinical evaluation.…”

Section: Discussionmentioning

confidence: 99%

“…Suspicion of FOP early in life, on the basis of malformed great toes, can lead to an early clinical diagnosis. During the first decade of life, sporadic episodes of painful soft tissue swellings occur and are commonly mistaken for tumors; confirmatory genetic testing is now available (23,24).…”

Section: Discussionmentioning

confidence: 99%

Pseudomalignant myositis ossificans in the breast: A case report

et al. 2018

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Abstract. Myositis ossificans (MO) is characterized by abnormal heterotopic ossification formation, typically involving muscles, tendons, ligaments, fascia, and aponeurosis. It can be categorized into nonhereditary and hereditary types, with the latter being a distinct entity with a separate pathophysiology and treatment approach. The pathophysiology of MO formation remains to be fully elucidated. MO is most commonly observed in muscle tissue as a solitary lesion. The disease has been reported to occur in all ages, including the very young and in atypical locations, including hands, feet, ribs, head and neck. The present case report describes an unusual pseudomalignant form of MO in the breast. The authors discuss the clinical and morphological characteristics of the tumor and its treatment options.

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“…The estimated median life expectancy in patients with FOP is 56 years, and the most common causes of death are cardiorespiratory failure from thoracic insufficiency syndrome and pneumonia . Autopsies show evidence of right ventricular dilatation likely secondary to thoracic insufficiency . Traumatic brain injury from falling is another important cause of death for patients with FOP …”

Section: Disability and Lifementioning

confidence: 99%

Fibrodysplasia ossificans progressiva: Review and research activities in Japan

Haga

Nakashima

Kitoh³

et al. 2020

Pediatrics International

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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic skeletal disorder manifesting progressive heterotopic ossification (HO) and congenital malformation of the great toes. Since 2007, we have conducted research on FOP. Here, we review the findings on FOP published to date, including the results of our research. Epidemiological studies in Japan have indicated that FOP has nearly the same prevalence in Japan as in the rest of the world. Basic research on its pathoetiology has progressed rapidly since the identification of the causal gene in 2006. Clinical and radiological findings have been thoroughly researched, including early radiological signs, and diagnostic criteria were established, designating FOP as an intractable disease in Japan. In patients with FOP, the progression of HO is associated with numerous disabilities, often manifesting in vicious cycles that can lead to early mortality. Through cross-sectional and short-term longitudinal studies, we have explored patient education, quality of life, and activities of daily living among Japanese patients. The management of FOP requires education of patients and caregivers, the use of medications to settle inflammation and flare-ups, instructions to ensure proper oral care, and other compensatory approaches that aid in rehabilitation. An avoidance of medical intervention, which may cause HO to progress, is also important. The advent of new drugs to prevent HO could have clinical benefit.

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Clinical-pathological correlations in three patients with fibrodysplasia ossificans progressiva

Cited by 18 publications

References 23 publications

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

Pseudomalignant myositis ossificans in the breast: A case report

Fibrodysplasia ossificans progressiva: Review and research activities in Japan

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