TY - JOUR
T1 - Screening, patient identification, evaluation, and treatment in patients with Gaucher disease
T2 - Results from a Delphi consensus
AU - Kishnani, Priya S.
AU - Al-Hertani, Walla
AU - Balwani, Manisha
AU - Göker-Alpan, Özlem
AU - Lau, Heather A.
AU - Wasserstein, Melissa
AU - Weinreb, Neal J.
AU - Grabowski, Gregory
N1 - Funding Information:
This initiative was supported by a grant from Takeda to INNOTIO GmbH. Takeda had no involvement in the selection of the steering committee or panel members nor the content of this paper. The authors are grateful to INNOTIO GmbH, Switzerland, for providing administrative and project management support for the initiative and for medical writing, editorial support, and project management support in preparation of this manuscript. The Steering Committee members provided expert clinical insight throughout the development of this modified Delphi initiative, advised on the recruitment for the panel members, and contributed to the concept, design, and development of the initiative and the development of the questions as well as to the interpretation of the findings. All steering committee members contributed to the development and approval of the manuscript. DSB, JB, TAB, BB, ALE, CF, PG, CH, DK, NL, GHBM, CEP, BER, RS, WW, and AY were voting members of the panel and provided expert input at each round of review of the statements. The panel members for this modified Delphi exercise were:, Deborah S. Barbouth (DSB), University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, 1601 NW 12th Street, Miami, FL 33136, USA. John Bernat (JB), The University of Iowa Hospitals and Clinics, Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, 200 Hawkins Drive, W119 GH, Iowa City, IA 52242-1396, USA. T. Andrew Burrow (TAB), University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Department of Pediatrics, Section of Genetics and Metabolism, 1 Children's Way Slot 512-22, Little Rock, AR 72202, USA. Barbara Burton (BB), Ann & Robert H. Lurie Children's Hospital of Chicago, Division of Genetics, Birth Defects and Metabolism, 225 E. Chicago Avenue, Chicago, IL 60611, USA. Angelika L. Erwin (ALE), Cleveland Clinic Cleveland, Center for Personalized Genetic Healthcare, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Can Ficicioglu (CF), The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Division of Human Genetics, Section of Metabolism, 3501 Civic Center Boulevard #9054, Philadelphia, PA 19104, USA. Punita Gupta (PG), St. Joseph's Children's Hospital, Division of Genetics, Department of Pediatrics, 703 Main Street, Paterson, NJ 07503, USA. Coy Heldermon (CH), University of Florida, Shands Cancer Center, Departments of Medicine and Pediatrics, 1549 Gale Lemerand Drive, Second Floor, Gainesville, FL 32608, USA. David Kuter (DK), Massachusetts General Hospital, Hematology Division, 1st Floor, Suite 118, Zero Emerson Place, Boston, MA 02114, USA. Nicola Longo (NL), University of Utah, Medical Genetics, Pediatrics, 295 Chipeta Way, Salt Lake City, UT 84108, USA. Gustavo H.B. Maegawa (GHBM), University of Florida, Departments of Pediatrics, Genetics and Metabolism, R1-118D, 1600 SW Archer Road, Gainesville, FL 32608, USA. Carlos E. Prada (CEP), University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Burnet Campus, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Barry E. Rosenbloom (BER), Cedars-Sinai Tower Hematology Oncology, IM/Hematology/Oncology, 9090 Wilshire Boulevard, Suite 300, Beverly Hills, CA 90211, USA. Raphael Schiffmann (RS), Baylor Scott & White Research Institute, 3434 Live Oak Street, Suite 501, Dallas, TX 75206, USA. William Wilcox (WW), Emory University School of Medicine, 201 Dowman Drive, Atlanta, GA 30322, USA. Amy Yang (AY), Oregon Health & Science University, Department of Molecular and Medical Genetics, 3181 SW Sam Jackson Park Road, L103, Portland, OR 97239, USA.
Funding Information:
This initiative was supported by a grant from Takeda to INNOTIO GmbH . Takeda had no involvement in the selection of the steering committee or panel members nor the content of this paper. The authors are grateful to INNOTIO GmbH, Switzerland, for providing administrative and project management support for the initiative and for medical writing, editorial support, and project management support in preparation of this manuscript.
Publisher Copyright:
© 2021
PY - 2022/2
Y1 - 2022/2
N2 - Several guidelines are available for identification and management of patients with Gaucher disease, but the most recent guideline was published in 2013. Since then, there have been significant advances in newborn screening, phenotypic characterization, identification of biomarkers and their integration into clinical practice, and the development and approval of new treatment options. Accordingly, the goal of this Delphi consensus exercise was to extend prior initiatives of this type by addressing issues related to newborn screening, diagnostic evaluations, and treatment (both disease directed and adjunctive). The iterative Delphi process involved creation of an initial slate of statements, review by a steering committee, and three rounds of consensus development by an independent panel. A preliminary set of statements was developed by the supporting agency based on literature searches covering the period from 1965 to 2020. The Delphi process reduced an initial set of 185 statements to 65 for which there was unanimous support from the panel. The statements supported may ultimately provide a framework for more detailed treatment guidelines. In addition, the statements for which unanimous support could not be achieved help to identify evidence gaps that are targets for future research.
AB - Several guidelines are available for identification and management of patients with Gaucher disease, but the most recent guideline was published in 2013. Since then, there have been significant advances in newborn screening, phenotypic characterization, identification of biomarkers and their integration into clinical practice, and the development and approval of new treatment options. Accordingly, the goal of this Delphi consensus exercise was to extend prior initiatives of this type by addressing issues related to newborn screening, diagnostic evaluations, and treatment (both disease directed and adjunctive). The iterative Delphi process involved creation of an initial slate of statements, review by a steering committee, and three rounds of consensus development by an independent panel. A preliminary set of statements was developed by the supporting agency based on literature searches covering the period from 1965 to 2020. The Delphi process reduced an initial set of 185 statements to 65 for which there was unanimous support from the panel. The statements supported may ultimately provide a framework for more detailed treatment guidelines. In addition, the statements for which unanimous support could not be achieved help to identify evidence gaps that are targets for future research.
KW - Genotype
KW - Newborn screening
KW - Phenotype
KW - Recommendations
UR - http://www.scopus.com/inward/record.url?scp=85121918994&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2021.12.009
DO - 10.1016/j.ymgme.2021.12.009
M3 - Article
C2 - 34972655
AN - SCOPUS:85121918994
SN - 1096-7192
VL - 135
SP - 154
EP - 162
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -