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

Ruben D. de Ruiter, Bernard J. Smilde, Gerard Pals, Nathalie Bravenboer, Petra Knaus, Ton Schoenmaker, Esmée Botman, Gonzalo Sánchez-Duffhues, Maurizio Pacifici, Robert J. Pignolo, Eileen M. Shore, Marjolein van Egmond, Hans Van Oosterwyck, Frederick S. Kaplan, Edward C. Hsiao, Paul B. Yu, Renata Bocciardi, Carmen Laura De Cunto, Patricia Longo Ribeiro Delai, Teun J. de VriesSusanne Hilderbrandt, Richard T. Jaspers, Richard Keen, Peter Koolwijk, Rolf Morhart, Jan C. Netelenbos, Thomas Rustemeyer, Christiaan Scott, Clemens Stockklausner, Peter ten Dijke, James Triffit, Francesc Ventura, Roberto Ravazzolo, Dimitra Micha, Elisabeth M.W. Eekhoff

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)

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.

Original languageEnglish
Article number732728
Pages (from-to)1-8
Number of pages8
JournalFrontiers in Endocrinology
Volume12
Issue numberNovember
Early online date10 Nov 2021
DOIs
Publication statusPublished - 10 Nov 2021

Keywords

  • angiogenesis
  • disease models
  • fibrodysplasia ossificans progessiva (FOP)
  • inflammation
  • therapy
  • trials

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