International physician survey on management of FOP: a modified Delphi study

Maja Di RoccoEmail author,
Genevieve Baujat,
Marta Bertamino,
Matthew Brown,
Carmen L. De Cunto,
Patricia L. R. Delai,
Elisabeth M. W. Eekhoff,
Nobuhiko Haga,
Edward Hsiao,
Richard Keen,
Rolf Morhart,
Robert J. Pignolo and
Frederick S. Kaplan

Orphanet Journal of Rare Diseases201712:110

DOI: 10.1186/s13023-017-0659-4

Received: 28 February 2017

Accepted: 19 May 2017

Published: 12 June 2017

Abstract

Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened. Using a modified Delphi method, broad international consensus was reached on four main topics: diagnosis, prevention of flare-ups, patient and family-centered care and general clinical management issues. This study of physician preferences provides a basis for standardization of clinical management for FOP.