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.

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120 –150... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 7, 2022 Category: Internal Medicine Authors: Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga and Francisco H. Nociti Jr. Tags: Letter to the Editor Source Type: research

The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey
CONCLUSIONS: Data from this survey will improve understanding of the impact of FOP on patients and family members, which is important for identifying unmet needs, optimizing care, and improving support for the FOP community.PMID:36017643 | DOI:10.1080/14737167.2022.2115360 (Source: Expert Review of Pharmacoeconomics and Outcomes Research)
Source: Expert Review of Pharmacoeconomics and Outcomes Research - August 26, 2022 Category: Health Management Authors: Mona Al Mukaddam Katherine S Toder Michelle Davis Amanda Cali Moira Liljesthr öm Suzanne Hollywood Kim Croskery Anne-Sophie Grandoulier Elaine A B öing John D Whalen Frederick S Kaplan Source Type: research

Scalp Nodules and Deformed Great Toes: Omens of Fibrodysplasia Ossificans Progressiva
We report a case of fibrous scalp nodules and bilateral hallux valgus in an infant who one decade later was diagnosed with a rare life-threatening genetic disease. (Source: Annals of Plastic Surgery)
Source: Annals of Plastic Surgery - August 24, 2022 Category: Cosmetic Surgery Tags: Head and Neck Surgery Source Type: research

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles
Human Gene Therapy,Volume 33, Issue 15-16, Page 782-788, August 2022. (Source: Human Gene Therapy)
Source: Human Gene Therapy - August 16, 2022 Category: Genetics & Stem Cells Authors: Elisabeth M.W. Eekhoff Ruben D. de Ruiter Bernard J. Smilde Ton Schoenmaker Teun J. de Vries Coen Netelenbos Edward C. Hsiao Christiaan Scott Nobuhiko Haga Zvi Grunwald Carmen L. De Cunto Maja di Rocco Patricia L. R. Delai Robert J. Diecidue Vrisha Madhur Source Type: research

Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo-Controlled, Double-Blind Phase 2 Trial
J Bone Miner Res. 2022 Jul 19. doi: 10.1002/jbmr.4655. Online ahead of print.ABSTRACTFibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive heterotopic ossification (HO), often heralded by flare-ups, leading to reduced movement and life expectancy. This placebo-controlled, double-blind trial (NCT02190747) evaluated palovarotene, an orally bioavailable selective retinoic acid receptor gamma agonist, for prevention of HO in patients with FOP. Patients experiencing a flare-up were enrolled in two cohorts: 1) patients ≥15 years were randomized 3:1 to palovarotene 10/5 mg (W...
Source: Cell Research - July 20, 2022 Category: Cytology Authors: Robert J Pignolo Genevieve Baujat Edward C Hsiao Richard Keen Amy Wilson Jeff Packman Andrew L Strahs Donna R Grogan Frederick S Kaplan Source Type: research

Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo ‐Controlled, Double‐Blind Phase 2 Trial
AbstractFibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive heterotopic ossification (HO), often heralded by flare-ups, leading to reduced movement and life expectancy. This placebo-controlled, double-blind trial (NCT02190747) evaluated palovarotene, an orally bioavailable selective retinoic acid receptor gamma agonist, for prevention of HO in patients with FOP.Patients experiencing a flare-up were enrolled in two cohorts: 1) patients ≥15 years were randomized 3:1 to palovarotene 10/5 mg (Weeks 1–2/3–6) or placebo; 2) patients ≥6 years were randomized 3:3:2...
Source: Journal of Bone and Mineral Research - July 20, 2022 Category: Orthopaedics Authors: Robert J. Pignolo, Genevieve Baujat, Edward C. Hsiao, Richard Keen, Amy Wilson, Jeff Packman, Andrew L. Strahs, Donna R. Grogan, Frederick S. Kaplan Tags: Clinical Trial Source Type: research

Overexpression of Wild ‐Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification
ABSTRACTFibrodysplasia ossificans progressiva (FOP) is a devastating disease of progressive heterotopic bone formation for which effective treatments are currently unavailable. FOP is caused by dominant gain-of-function mutations in the receptor ACVR1 (also known as ALK2), which render the receptor inappropriately responsive to activin ligands. In previous studies, we developed a genetic mouse model of FOP that recapitulates most clinical aspects of the disease. In this model, genetic loss of the wild-typeAcvr1 allele profoundly exacerbated heterotopic ossification, suggesting the hypothesis that the stoichiometry of wild-...
Source: Journal of Bone and Mineral Research - July 4, 2022 Category: Orthopaedics Authors: Masakazu Yamamoto, Sean J Stoessel, Shoko Yamamoto, David J Goldhamer Tags: Research Article Source Type: research

PCR44 Quantifying Outcomes in Fibrodysplasia Ossificans Progressiva (FOP) By Patient Age: Results from an International Burden of Illness Survey
We present results from an international FOP burden of illness survey (NCT04665323) assessing joint function, quality of life (QoL), and use of aids, assistive devices, and adaptations (AADAs) by age. (Source: Value in Health)
Source: Value in Health - June 26, 2022 Category: International Medicine & Public Health Authors: M Al Mukaddam, KS Toder, M Davis, K Croskery, AS Grandoulier, EA B öing, FS Kaplan Source Type: research

Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia. FOP is caused by mutations in the type I BMP receptor gene ACVR1, which enable ACVR1 to utilize its natural antagonist, activin A, as an agonistic ligand. The physiological relevance of this property is underscored by the fact that HO in FOP is exquisitely dependent on activation of FOP-mutant ACVR1 by activin A, an effect countered by inhibition of anti–activin A via monoclonal antibody treatment. Hence, w...
Source: Journal of Clinical Investigation - June 15, 2022 Category: Biomedical Science Authors: Senem Aykul, Lily Huang, Lili Wang, Nanditha M. Das, Sandra Reisman, Yonaton Ray, Qian Zhang, Nyanza Rothman, Kalyan C. Nannuru, Vishal Kamat, Susannah Brydges, Luca Troncone, Laura Johnsen, Paul B. Yu, Sergio Fazio, John Lees-Shepard, Kevin Schutz, Andre Source Type: research

An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive and catastrophic heterotopic ossification (HO) of skeletal muscle and associated soft tissues. FOP is caused by dominantly acting mutations in the gene encoding the bone morphogenetic protein (BMP) type I receptor, ACVR1 (ALK2), the most prevalent of which results in an arginine to histidine substitution at position 206 (ACVR1[R206H]). The fundamental pathological consequence of FOP-causing ACVR1 receptor mutations is to enable activin A to initiate canonical BMP signaling in fibro-adipogenic progenitors (FAPs), which drives ...
Source: Journal of Clinical Investigation - June 15, 2022 Category: Biomedical Science Authors: John B. Lees-Shepard, Sean J. Stoessel, Julian T. Chandler, Keith Bouchard, Patricia Bento, Lorraine N. Apuzzo, Parvathi M. Devarakonda, Jeffrey W. Hunter, David J. Goldhamer Source Type: research