TY - JOUR
T1 - Diagnosis of primary ciliary dyskinesia
T2 - An official American thoracic society clinical practice guideline
AU - Shapiro, Adam J.
AU - Davis, Stephanie D.
AU - Polineni, Deepika
AU - Manion, Michele
AU - Rosenfeld, Margaret
AU - Dell, Sharon D.
AU - Chilvers, Mark A.
AU - Ferkol, Thomas W.
AU - Zariwala, Maimoona A.
AU - Sagel, Scott D.
AU - Josephson, Maureen
AU - Morgan, Lucy
AU - Yilmaz, Ozge
AU - Olivier, Kenneth N.
AU - Milla, Carlos
AU - Pittman, Jessica E.
AU - Leigh Anne Daniels, M.
AU - Jones, Marcus Herbert
AU - Janahi, Ibrahim A.
AU - Ware, Stephanie M.
AU - Daniel, Sam J.
AU - Cooper, Matthew L.
AU - Nogee, Lawrence M.
AU - Anton, Billy
AU - Eastvold, Tori
AU - Ehrne, Lynn
AU - Guadagno, Elena
AU - Knowles, Michael R.
AU - Leigh, Margaret W.
AU - Lavergne, Valery
N1 - Funding Information:
Author Disclosures: A.J.S. served as site principal investigator for a Parion/Vertex clinical trial for VX-371: Clearing Lungs with ENaC Inhibition in Primary Ciliary Dyskinesia (CLEAN-PCD), registration number NCT02871778. S. D. Davis served as a consultant for Eli Lilly and Vertex; received research support from Circassia (formerly Aerocrine), Parion/Vertex, and the Cystic Fibrosis Foundation; served as a speaker for ABcomm Inc. and Parion/Vertex; received support from an educational grant from Gilead; and served on an advisory committee for Parion/Vertex.
Funding Information:
S. D. Dell served as site principal investigator for a Parion/Vertex clinical trial for VX-371 (see above); served on an advisory committee and as a consultant for Vertex; and served as a consultant for Novartis. T.W.F. served as site principal investigator for a Parion/Vertex clinical trial for VX-371 (see above); served as site principal investigator for a device trial for Circassia (formerly Aerocrine); holds five United States and international patents; and received research support from the Children’s Discovery Institute and the Cystic Fibrosis Foundation. M.R.K. served on an advisory committee for Corus Pharma and Proteostasis Therapeutics; and served as a consultant for Gilead and Vertex. M.W.L. served as site principal investigator for the Parion/Vertex clinical trial for VX-371 (see above); served as site principal investigator for a device trial for Circassia (formerly Aerocrine); and served on an advisory committee for Vertex. C.M. served as a consultant for AbbVie, Gilead, Proteostasis, and Vertex; served as a site principal investigator for a Proteostasis clinical trial for PTI-428 (an investigational oral treatment for cystic fibrosis); and served as site principal investigator for a Parion/Vertex clinical trial for VX-371 (see above). L.M.N. received royalties from UpToDate for coauthoring a chapter on genetic surfactant dysfunction disorders. K.N.O. received research support from Insmed and Matinas BioPharma; and served as a speaker for Bayer HealthCare. D.P. served as consultant for Vertex. S.D.S. received research support from the Cystic Fibrosis Foundation. O.Y. received travel support for conferences from Abdi Ibrahim, Allergopharma–Merck Turkey, Bilim, and GlaxoSmithKline. M.A.Z. served as a consultant for a Parion/Vertex clinical trial for VX-371 (see above). V.L., M.M., B.A., M.A.C., M.L.C., S.J.D., M.L.A.D., T.E., L.E., E.G., I.A.J., M.H.J., M.J., L.M., J.E.P., M.R., and S.M.W. reported no relationships with relevant commercial interests.
Funding Information:
Supported by a pediatric assembly grant through the American Thoracic Society, as well as in part by the Division of Intramural Research, NHLBI, NIH (K.N.O.).
Publisher Copyright:
Copyright © 2018 by the American Thoracic Society.
PY - 2018/6/15
Y1 - 2018/6/15
N2 - Background: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians investigating adult and pediatric patients for possible PCD. Methods: Systematic reviews and, when appropriate, meta-Analyses were conducted to summarize all available evidence pertinent to our clinical questions. Evidence was assessed using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach for diagnosis and discussed by amultidisciplinary panelwith expertise in PCD. Predetermined conflict-of-interest management strategies were applied, and recommendations were formulated, written, and graded exclusively by the nonconflicted panelists. Three conflicted individuals were also prohibited from writing, editing, or providing feedback on the relevant sections of the manuscript. Results: After considering diagnostic test accuracy, confidence in the estimates for each diagnostic test, relative importance of test results studied, desirable and undesirable direct consequences of each diagnostic test, downstream consequences of each diagnostic test result, patient values and preferences, costs, feasibility, acceptability, and implications for health equity, the panel made recommendations for or against the use of specific diagnostic tests as compared with using the current reference standard (transmission electron microscopy and/or genetic testing) for the diagnosis of PCD. Conclusions: The panel formulated and provided a rationale for the direction as well as for the strength of each recommendation to establish the diagnosis of PCD.
AB - Background: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians investigating adult and pediatric patients for possible PCD. Methods: Systematic reviews and, when appropriate, meta-Analyses were conducted to summarize all available evidence pertinent to our clinical questions. Evidence was assessed using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach for diagnosis and discussed by amultidisciplinary panelwith expertise in PCD. Predetermined conflict-of-interest management strategies were applied, and recommendations were formulated, written, and graded exclusively by the nonconflicted panelists. Three conflicted individuals were also prohibited from writing, editing, or providing feedback on the relevant sections of the manuscript. Results: After considering diagnostic test accuracy, confidence in the estimates for each diagnostic test, relative importance of test results studied, desirable and undesirable direct consequences of each diagnostic test, downstream consequences of each diagnostic test result, patient values and preferences, costs, feasibility, acceptability, and implications for health equity, the panel made recommendations for or against the use of specific diagnostic tests as compared with using the current reference standard (transmission electron microscopy and/or genetic testing) for the diagnosis of PCD. Conclusions: The panel formulated and provided a rationale for the direction as well as for the strength of each recommendation to establish the diagnosis of PCD.
KW - Diagnosis
KW - Kartagener syndrome
KW - Nitric oxide
KW - Primary ciliary dyskinesia
KW - Situs inversus
UR - http://www.scopus.com/inward/record.url?scp=85049040265&partnerID=8YFLogxK
U2 - 10.1164/rccm.201805-0819ST
DO - 10.1164/rccm.201805-0819ST
M3 - Article
C2 - 29905515
AN - SCOPUS:85049040265
SN - 1073-449X
VL - 197
SP - e24-e39
JO - American journal of respiratory and critical care medicine
JF - American journal of respiratory and critical care medicine
IS - 12
ER -