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Review
. 2021 Nov 10:12:732728.
doi: 10.3389/fendo.2021.732728. eCollection 2021.

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

Ruben D de Ruiter  1 , Bernard J Smilde  1 , Gerard Pals  2 , Nathalie Bravenboer  3 , Petra Knaus  4 , Ton Schoenmaker  5 , Esmée Botman  1 , Gonzalo Sánchez-Duffhues  6 , Maurizio Pacifici  7 , Robert J Pignolo  8 , Eileen M Shore  9 , Marjolein van Egmond  10 , Hans Van Oosterwyck  11   12 , Frederick S Kaplan  13 , Edward C Hsiao  14 , Paul B Yu  15 , Renata Bocciardi  16 , Carmen Laura De Cunto  17 , Patricia Longo Ribeiro Delai  18 , Teun J de Vries  5 , Susanne Hilderbrandt  4   19 , Richard T Jaspers  20 , Richard Keen  21 , Peter Koolwijk  22 , Rolf Morhart  23 , Jan C Netelenbos  1 , Thomas Rustemeyer  24 , Christiaan Scott  25 , Clemens Stockklausner  20 , Peter Ten Dijke  6 , James Triffit  26 , Francesc Ventura  27 , Roberto Ravazzolo  16 , Dimitra Micha  2 , Elisabeth M W Eekhoff  1
Affiliations
Review

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

Ruben D de Ruiter et al. Front Endocrinol (Lausanne). .

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.

Keywords: angiogenesis; disease models; fibrodysplasia ossificans progessiva (FOP); inflammation; therapy; trials.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Highlights and key discoveries in FOP research leading up to the 2015 Lorentz meeting and after.
Figure 2
Figure 2
Schematic overview of drugs and investigational compounds currently used and/or evaluated in FOP treatment and their respective targets.
See this image and copyright information in PMC

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