Fibrodysplasia Ossificans Progressiva Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Reduction of New Heterotopic Ossification (HO) in the Open ‐Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)
AbstractFibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single-arm, open-label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of palovarotene, a selective retinoic acid receptor gamma agonist, in patients with FOP. Findings were compared with FOP natural history study (NHS; NCT02322255) participants untreated beyond standard of care.Patients aged ≥4 years received palovarotene once-daily (chronic: 5 mg; flare-up: 20 mg for 4 weeks then 10 mg for ≥8 weeks; weight-adjusted if skeletally immature). The...
Source: Journal of Bone and Mineral Research - December 30, 2022 Category: Orthopaedics Authors: Robert J. Pignolo, Edward C. Hsiao, Mona Al Mukaddam, Genevi ève Baujat, Staffan K. Berglund, Matthew A. Brown, Angela M. Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim‐Hanh Le Quan Sang, Edna E. Man Tags: Clinical Trial Source Type: research

Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint
Cleft Palate Craniofac J. 2022 Dec 19:10556656221146598. doi: 10.1177/10556656221146598. Online ahead of print.NO ABSTRACTPMID:36536588 | DOI:10.1177/10556656221146598 (Source: The Cleft Palate-Craniofacial Journal)
Source: The Cleft Palate-Craniofacial Journal - December 20, 2022 Category: ENT & OMF Authors: Sarut Chaisrisawadisuk Kelly J Oliver Sarah Constantine Jonathan Azzopardi Peter J Anderson Mark H Moore Source Type: research

186. True lock-jaw: a familial update on Fibrodysplasia Ossificans Progressive
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare, disabling condition which is caused by an autosomal dominant allele on chromosome 2q23-24 and the mutation of gene ACVR1. There are only 800 cases worldwide. FOPinduces mineralisation in muscles, tendons, ligaments and connective tissue following minor trauma. (Source: The British Journal of Oral and Maxillofacial Surgery)
Source: The British Journal of Oral and Maxillofacial Surgery - December 1, 2022 Category: ENT & OMF Authors: Ayesha Dalal, Ayesha Dalal, Isaac Chan, Gabriele Baniulyte, John Bowden Source Type: research

EE243 Cost-Effectiveness Model Conceptualisation in Fibrodysplasia Ossificans Progressiva
We describe conceptualisation of the first long-term cost-effectiveness model (CEM) comparing palovarotene to SoC. (Source: Value in Health)
Source: Value in Health - December 1, 2022 Category: International Medicine & Public Health Authors: AM Cheung, E Remak, R Evans, Q Xin, E Boing, RJ Pignolo Source Type: research

PCR24 The Humanistic and Economic Impact of Fibrodysplasia Ossificans Progressiva on Primary Caregivers: Results From an International Burden of Illness Survey
We present results from an international burden of illness survey (NCT04665323) assessing the humanistic and economic impact of FOP on primary caregivers. (Source: Value in Health)
Source: Value in Health - December 1, 2022 Category: International Medicine & Public Health Authors: M Al Mukaddam, KS Toder, M Davis, K Croskery, AS Grandoulier, E Boing, FS Kaplan Source Type: research

SA20 Clinical, Humanistic, and Economic Burden in Fibrodysplasia Ossificans Progressiva (FOP): A Systematic Literature Review
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely debilitating genetic disorder characterised by congenital skeletal malformations and irreversible heterotopic ossification in soft and connective tissues. This review identified clinical, humanistic, and economic published literature to elucidate the burden of illness associated with FOP. (Source: Value in Health)
Source: Value in Health - December 1, 2022 Category: International Medicine & Public Health Authors: JC Thompson, Q Xin, E Boing Source Type: research

Shedding Light on Bone Morphogenetic Protein (BMP) Signaling Modifiers to Modulate Fibrodysplasia Ossificans Progressiva Severity
(Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - November 28, 2022 Category: Orthopaedics Authors: Antonella Forlino Tags: Editorial Source Type: research

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole ‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H‐Specific Human Cellular and Zebrafish Models
ABSTRACTBone morphogenetic protein (BMP) signaling is critical in skeletal development. Overactivation can trigger heterotopic ossification (HO) as in fibrodysplasia ossificans progressiva (FOP), a rare, progressive disease of massive HO formation. A small subset of FOP patients harboring the causativeACVR1R206H mutation show strikingly mild or delayed-onset HO, suggesting that genetic variants in the BMP pathway could act as disease modifiers. Whole-exome sequencing of one such patient identifiedBMPR1AR443C andACVR2AV173I as candidate modifiers. Molecular modeling predicted significant structural perturbations. Neither va...
Source: Journal of Bone and Mineral Research - November 28, 2022 Category: Orthopaedics Authors: Kelly L. Wentworth, Robert L. Lalonde, Jay C. Groppe, Niambi Brewer, Tania Moody, Steven Hansberry, Kimberly E. Taylor, Eileen M. Shore, Frederick S. Kaplan, Robert J. Pignolo, Pamela C. Yelick, Edward C. Hsiao Tags: Research Article Source Type: research

Shedding Light on Bone Morphogenetic Protein (BMP) Signaling Modifiers to Modulate Fibrodysplasia Ossificans Progressiva Severity
(Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - November 12, 2022 Category: Orthopaedics Authors: Antonella Forlino Tags: EDITORIAL Source Type: research

SARS-CoV-2-specific humoral and cellular immune responses to BNT162b2 vaccine in Fibrodysplasia ossificans progressiva patients
ConclusionsThe BNT162b2 vaccine induced high humoral and cellular response levels in patients with FOP. Vaccination was not associated with SAE or disease relapse. The AEs spectrum was comparable to that of the general population. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - November 9, 2022 Category: Allergy & Immunology Source Type: research

Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed ‐onset fibrodysplasia ossificans progressiva (FOP) using ACVR1R206H‐specific human cellular and zebrafish models
AbstractBone morphogenetic protein (BMP) signaling is critical in skeletal development. Over-activation can trigger heterotopic ossification (HO) as in fibrodysplasia ossificans progressiva (FOP), a rare, progressive disease of massive HO formation. A small subset of FOP patients harboring the causativeACVR1R206H mutation show strikingly mild or delayed-onset HO, suggesting that genetic variants in the BMP pathway could act as disease modifiers.Whole exome sequencing of one such patient identifiedBMPR1AR443C andACVR2AV173I as candidate modifiers. Molecular modeling predicted significant structural perturbations. Neither va...
Source: Journal of Bone and Mineral Research - September 25, 2022 Category: Orthopaedics Authors: KL Wentworth, RL Lalonde, JC Groppe, N Brewer, T Moody, S Hansberry, K Taylor, EM Shore, FS Kaplan, RJ Pignolo, PC Yelick, EC Hsiao Tags: Research Article Source Type: research

Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification (HO) in soft tissues due to a heterozygous mutation of the ACVR1A gene (FOP-ACVR1A), ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 21, 2022 Category: Internal Medicine Authors: Hirotsugu Maekawa, Yonghui Jin, Megumi Nishio, Shunsuke Kawai, Sanae Nagata, Takeshi Kamakura, Hiroyuki Yoshitomi, Akira Niwa, Megumu K. Saito, Shuichi Matsuda and Junya Toguchida Tags: Research Source Type: research