TY - JOUR
T1 - Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders
AU - on behalf of the Skeletal Dysplasia Management Consortium
AU - Savarirayan, Ravi
AU - Bompadre, Viviana
AU - Bober, Michael B.
AU - Cho, Tae Joon
AU - Goldberg, Michael J.
AU - Hoover-Fong, Julie
AU - Irving, Melita
AU - Kamps, Shawn E.
AU - Mackenzie, William G.
AU - Raggio, Cathleen
AU - Spencer, Samantha S.
AU - White, Klane K.
N1 - Funding Information:
M.B.B. is a consultant for Ascendis Pharma, BioMarin Pharmaceutical, QED Therapeutics, and Therachon; member of the Speaker’s Bureau for Alexion Pharmaceuticals; and site principal investigator for Shire, BioMarin, Medlife Sciences, Osteogenesis Imperfecta (OI) Foundation, Growing Stronger Foundation, Walking With Giants Foundation, Potentials Foundation, and RhizoKids International. R.S. is a consultant for BioMarin, Ascendis, Alexion Pharmaceuticals, and QED Therapeutics. K.K. W. has received consulting fees, speaker’s honoraria, travel reimbursement, and grant support from BioMarin Pharmaceuticals; speaker’s honoraria and travel reimbursement from Genzyme; royalties from UpToDate.com; and grant support from Alexion and Ultragenyx. J. H.-F. is a paid consultant to BioMarin. This arrangement has been reviewed and approved by the Johns Hopkins University in accordance with its conflict of interest policies. W.G.M. is a member of the Little People of America Medical Advisory Board and MPS Medical Advisory Board and has received an honorarium from BioMarin. C.R. is a consultant to BioMarin, Ascendis, and Alexion and a member of the OI Foundation Advisory Committee. The other authors declare no conflicts of interest.
Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Purpose: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Methods: A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual. Results: After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). Conclusions: Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.
AB - Purpose: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Methods: A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual. Results: After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). Conclusions: Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.
KW - Delphi process
KW - best practice guidelines
KW - management
KW - skeletal dysplasia
KW - type II collagen disorder
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U2 - 10.1038/s41436-019-0446-9
DO - 10.1038/s41436-019-0446-9
M3 - Article
C2 - 30696995
AN - SCOPUS:85060937206
VL - 21
SP - 2070
EP - 2080
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 9
ER -