TY - JOUR
T1 - International physician survey on management of FOP
T2 - A modified Delphi study
AU - Di Rocco, Maja
AU - Baujat, Genevieve
AU - Bertamino, Marta
AU - Brown, Matthew
AU - De Cunto, Carmen L.
AU - Delai, Patricia L.R.
AU - Eekhoff, Elisabeth M.W.
AU - Haga, Nobuhiko
AU - Hsiao, Edward
AU - Keen, Richard
AU - Morhart, Rolf
AU - Pignolo, Robert J.
AU - Kaplan, Frederick S.
N1 - Publisher Copyright:
© 2017 The Author(s).
PY - 2017/6/12
Y1 - 2017/6/12
N2 - 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.
AB - 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.
KW - ACVR1
KW - Fibrodysplasia ossificans progressiva
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U2 - 10.1186/s13023-017-0659-4
DO - 10.1186/s13023-017-0659-4
M3 - Review article
C2 - 28606101
AN - SCOPUS:85020447673
SN - 1750-1172
VL - 12
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 110
ER -