International physician survey on management of FOP: a modified Delphi study.
Identifieur interne : 000B08 ( PubMed/Corpus ); précédent : 000B07; suivant : 000B09International physician survey on management of FOP: a modified Delphi study.
Auteurs : Maja Di Rocco ; 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 ; Frederick S. KaplanSource :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 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.
DOI: 10.1186/s13023-017-0659-4
PubMed: 28606101
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De Cunto</name><affiliation><nlm:affiliation>Department of Pediatrics, Pediatric Rheumatology Section, Hospital Italiano de Buenos Aires, Gascón 450, 1181, Ciudad Autónoma de Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Delai, Patricia L R" sort="Delai, Patricia L R" uniqKey="Delai P" first="Patricia L R" last="Delai">Patricia L R. Delai</name><affiliation><nlm:affiliation>Orthopaedic Department of Santa Casa de Misericórdia de São Paulo, School of Medicine Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Pedro de Toledo 129 cj 121, Vila Clementino, 04039-001, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Eekhoff, Elisabeth M W" sort="Eekhoff, Elisabeth M W" uniqKey="Eekhoff E" first="Elisabeth M W" last="Eekhoff">Elisabeth M W. Eekhoff</name><affiliation><nlm:affiliation>Department of Internal Medicine/Section Endocrinology, VU Medical Center Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Haga, Nobuhiko" sort="Haga, Nobuhiko" uniqKey="Haga N" first="Nobuhiko" last="Haga">Nobuhiko Haga</name><affiliation><nlm:affiliation>Department of Rehabilitation Medicine Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hsiao, Edward" sort="Hsiao, Edward" uniqKey="Hsiao E" first="Edward" last="Hsiao">Edward Hsiao</name><affiliation><nlm:affiliation>Department of Endocrinology, Faculty Practice University of California-San Francisco, 400 Parnassus Ave., San Francisco, CA, 94143-1222, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Keen, Richard" sort="Keen, Richard" uniqKey="Keen R" first="Richard" last="Keen">Richard Keen</name><affiliation><nlm:affiliation>University College London Hospitals, London, NW1 2PQ, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Morhart, Rolf" sort="Morhart, Rolf" uniqKey="Morhart R" first="Rolf" last="Morhart">Rolf Morhart</name><affiliation><nlm:affiliation>Department of Pediatrics Klinikum Garmisch-Partenkirchen GmbH, Auenstraße 6, 82467, Garmisch-Partenkirchen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Pignolo, Robert J" sort="Pignolo, Robert J" uniqKey="Pignolo R" first="Robert J" last="Pignolo">Robert J. Pignolo</name><affiliation><nlm:affiliation>Department of Medicine, Division of Geriatric Medicine & Gerontology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kaplan, Frederick S" sort="Kaplan, Frederick S" uniqKey="Kaplan F" first="Frederick S" last="Kaplan">Frederick S. Kaplan</name><affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28606101</idno><idno type="pmid">28606101</idno><idno type="doi">10.1186/s13023-017-0659-4</idno><idno type="wicri:Area/PubMed/Corpus">000B08</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B08</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">International physician survey on management of FOP: a modified Delphi study.</title><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy. majadirocco@gaslini.org.</nlm:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Genevieve" last="Baujat">Genevieve Baujat</name><affiliation><nlm:affiliation>Service of Medical Genetics CHU Paris - Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Bertamino, Marta" sort="Bertamino, Marta" uniqKey="Bertamino M" first="Marta" last="Bertamino">Marta Bertamino</name><affiliation><nlm:affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Brown, Matthew" sort="Brown, Matthew" uniqKey="Brown M" first="Matthew" last="Brown">Matthew Brown</name><affiliation><nlm:affiliation>Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4069, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="De Cunto, Carmen L" sort="De Cunto, Carmen L" uniqKey="De Cunto C" first="Carmen L" last="De Cunto">Carmen L. De Cunto</name><affiliation><nlm:affiliation>Department of Pediatrics, Pediatric Rheumatology Section, Hospital Italiano de Buenos Aires, Gascón 450, 1181, Ciudad Autónoma de Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Delai, Patricia L R" sort="Delai, Patricia L R" uniqKey="Delai P" first="Patricia L R" last="Delai">Patricia L R. Delai</name><affiliation><nlm:affiliation>Orthopaedic Department of Santa Casa de Misericórdia de São Paulo, School of Medicine Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Pedro de Toledo 129 cj 121, Vila Clementino, 04039-001, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Eekhoff, Elisabeth M W" sort="Eekhoff, Elisabeth M W" uniqKey="Eekhoff E" first="Elisabeth M W" last="Eekhoff">Elisabeth M W. Eekhoff</name><affiliation><nlm:affiliation>Department of Internal Medicine/Section Endocrinology, VU Medical Center Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Haga, Nobuhiko" sort="Haga, Nobuhiko" uniqKey="Haga N" first="Nobuhiko" last="Haga">Nobuhiko Haga</name><affiliation><nlm:affiliation>Department of Rehabilitation Medicine Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hsiao, Edward" sort="Hsiao, Edward" uniqKey="Hsiao E" first="Edward" last="Hsiao">Edward Hsiao</name><affiliation><nlm:affiliation>Department of Endocrinology, Faculty Practice University of California-San Francisco, 400 Parnassus Ave., San Francisco, CA, 94143-1222, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Keen, Richard" sort="Keen, Richard" uniqKey="Keen R" first="Richard" last="Keen">Richard Keen</name><affiliation><nlm:affiliation>University College London Hospitals, London, NW1 2PQ, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Morhart, Rolf" sort="Morhart, Rolf" uniqKey="Morhart R" first="Rolf" last="Morhart">Rolf Morhart</name><affiliation><nlm:affiliation>Department of Pediatrics Klinikum Garmisch-Partenkirchen GmbH, Auenstraße 6, 82467, Garmisch-Partenkirchen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Pignolo, Robert J" sort="Pignolo, Robert J" uniqKey="Pignolo R" first="Robert J" last="Pignolo">Robert J. Pignolo</name><affiliation><nlm:affiliation>Department of Medicine, Division of Geriatric Medicine & Gerontology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kaplan, Frederick S" sort="Kaplan, Frederick S" uniqKey="Kaplan F" first="Frederick S" last="Kaplan">Frederick S. Kaplan</name><affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28606101</PMID><DateCreated><Year>2017</Year><Month>06</Month><Day>13</Day></DateCreated><DateRevised><Year>2017</Year><Month>06</Month><Day>16</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>12</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jun</Month><Day>12</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>International physician survey on management of FOP: a modified Delphi study.</ArticleTitle><Pagination><MedlinePgn>110</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-017-0659-4</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Di Rocco</LastName><ForeName>Maja</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy. majadirocco@gaslini.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baujat</LastName><ForeName>Genevieve</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Service of Medical Genetics CHU Paris - Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bertamino</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brown</LastName><ForeName>Matthew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4069, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Cunto</LastName><ForeName>Carmen L</ForeName><Initials>CL</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Pediatric Rheumatology Section, Hospital Italiano de Buenos Aires, Gascón 450, 1181, Ciudad Autónoma de Buenos Aires, Argentina.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delai</LastName><ForeName>Patricia L R</ForeName><Initials>PLR</Initials><AffiliationInfo><Affiliation>Orthopaedic Department of Santa Casa de Misericórdia de São Paulo, School of Medicine Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Pedro de Toledo 129 cj 121, Vila Clementino, 04039-001, São Paulo, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eekhoff</LastName><ForeName>Elisabeth M W</ForeName><Initials>EMW</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine/Section Endocrinology, VU Medical Center Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haga</LastName><ForeName>Nobuhiko</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Rehabilitation Medicine Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hsiao</LastName><ForeName>Edward</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Endocrinology, Faculty Practice University of California-San Francisco, 400 Parnassus Ave., San Francisco, CA, 94143-1222, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Keen</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>University College London Hospitals, London, NW1 2PQ, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morhart</LastName><ForeName>Rolf</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Pediatrics Klinikum Garmisch-Partenkirchen GmbH, Auenstraße 6, 82467, Garmisch-Partenkirchen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pignolo</LastName><ForeName>Robert J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Department of Medicine, Division of Geriatric Medicine & Gerontology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kaplan</LastName><ForeName>Frederick S</ForeName><Initials>FS</Initials><AffiliationInfo><Affiliation>Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>06</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Orphanet J Rare Dis</MedlineTA><NlmUniqueID>101266602</NlmUniqueID><ISSNLinking>1750-1172</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Audiol. 1999 Jun;8(1):29-33</RefSource><PMID Version="1">10499116</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Bone Miner Res. 2016 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RefType="Cites"><RefSource>Pediatrics. 2005 Nov;116(5):e654-61</RefSource><PMID Version="1">16230464</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Expert Opin Orphan Drugs. 2013 Aug;1(8):637-649</RefSource><PMID Version="1">24800180</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Syndromol. 2014 Aug;5(5):201-11</RefSource><PMID Version="1">25337067</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ACVR1</Keyword><Keyword MajorTopicYN="N">Fibrodysplasia ossificans progressiva</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>02</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>05</Month><Day>19</Day></PubMedPubDate><PubMedPubDate 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