title: Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
abstract: Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account.
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: m.biegstraaten@amc.uva.nl.
authors.forename: M
authors.initials: M
authors.lastname: Biegstraaten
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom. Electronic address: tmc12@medschl.cam.ac.uk.
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
authors.affiliation: Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Beaujon, France. Electronic address: nadia.belmatoug@aphp.fr.
authors.forename: N
authors.initials: N
authors.lastname: Belmatoug
authors.affiliation: Department of Biological Haematology, Hospital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand; EA CREaT 7283, Auvergne University, Clermont-Ferrand, France. Electronic address: mberger@chu-clermontferrand.fr.
authors.forename: M G
authors.initials: MG
authors.lastname: Berger
authors.affiliation: European Gaucher Alliance, Gloucestershire, United Kingdom. Electronic address: tanya@eurogaucher.org.
authors.forename: T
authors.initials: T
authors.lastname: Collin-Histed
authors.affiliation: Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany. Electronic address: stephan.vomdahl@med.uni-duesseldorf.de.
authors.forename: S
authors.initials: S
authors.lastname: Vom Dahl
authors.affiliation: Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genoa, Italy. Electronic address: majadirocco@gaslini.org.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.affiliation: Department of Haematology, HDES Hospital, Ponta Delgada, Av. D. Manuel I, PDL, Açores, Portugal. Electronic address: maria.cf.barros@azores.gov.pt.
authors.forename: C
authors.initials: C
authors.lastname: Fraga
authors.affiliation: Department of Cellular Biotechnologies and Hematology, Sapienza University, Via Benevento 6, 00161 Rome, Italy. Electronic address: giona@bce.uniroma1.it.
authors.forename: F
authors.initials: F
authors.lastname: Giona
authors.affiliation: Translational Research Unit, IIS Aragón, CIBERER, Zaragoza, Spain. Electronic address: giraldocastellano@gmail.com.
authors.forename: P
authors.initials: P
authors.lastname: Giraldo
authors.affiliation: Department of Endocrinology, Metabolic Diseases and Genetics, University Clinical Center Tuzla, Children's hospital, Tuzla, Bosnia & Herzegovina. Electronic address: hmensuda@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Hasanhodzic
authors.affiliation: University College London, Royal Free London NHS Foundation Trust, London, UK. Electronic address: rmgvdah@ucl.ac.uk.
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
authors.affiliation: Department of Nutrition, IMB, University of Oslo, Department of Hematology, Oslo University Hospital, Oslo, Norway. Electronic address: p.o.iversen@medisin.uio.no.
authors.forename: P O
authors.initials: PO
authors.lastname: Iversen
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.i.kiewiet@amc.uva.nl.
authors.forename: A I
authors.initials: AI
authors.lastname: Kiewiet
authors.affiliation: Department of Orphan Diseases, National Research Center for Hematology, 4 Novy Zykovsky pr., 125167, Moscow, Russia. Electronic address: elenalukina02@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Lukina
authors.affiliation: Hematology Center Karolinska, Department of Medicine at Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address: maciej.machaczka@ki.se.
authors.forename: M
authors.initials: M
authors.lastname: Machaczka
authors.affiliation: Department of Clinical Haematology, General Hospital of Athens "G. Gennimatas", Athens, Greece. Electronic address: tpmarin1@otenet.gr.
authors.forename: T
authors.initials: T
authors.lastname: Marinakis
authors.affiliation: Villa Metabolica, Center of Pediatric and Adolescent Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany. Electronic address: Karl-Eugen.Mengel@unimedizin-mainz.de.
authors.forename: E
authors.initials: E
authors.lastname: Mengel
authors.affiliation: Department of Medicine, National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. Electronic address: gpastores@mater.ie.
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
authors.affiliation: Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, Charité-University Medicine Berlin, Berlin, Germany. Electronic address: Ursula.Ploeckinger@charite.de.
authors.forename: U
authors.initials: U
authors.lastname: Plöckinger
authors.affiliation: Hematology Day Care Unit, Gaucher Clinic, The Center for Consultant Medicine, Nazareth Towers, Nazareth, Israel. Electronic address: roseerlich@gmail.com.
authors.forename: H
authors.initials: H
authors.lastname: Rosenbaum
authors.affiliation: Department of Internal Medicine, University Hospital Geneva Trois Chene, Geneva, Switzerland. Electronic address: Christine.Serratrice@hcuge.ch.
authors.forename: C
authors.initials: C
authors.lastname: Serratrice
authors.affiliation: Hematology Division, Department of Internal Medicine, University of Patras Medical School, Patras, Greece. Electronic address: argiris.symeonidis@yahoo.gr.
authors.forename: A
authors.initials: A
authors.lastname: Symeonidis
authors.affiliation: Department of Clinical Haematology & BMT Service, The Royal Melbourne Hospital, Melbourne, Australia. Electronic address: jeff.szer@mh.org.au.
authors.forename: J
authors.initials: J
authors.lastname: Szer
authors.affiliation: 'Volwassenen, Kinderen, Stofwisselingsziekten', Dutch Patient Organization for Children and Adults with Metabolic Disorders, Zwolle, The Netherlands. Electronic address: j.timmerman@solcon.nl.
authors.forename: J
authors.initials: J
authors.lastname: Timmerman
authors.affiliation: The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: atylki@op.pl.
authors.forename: A
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.affiliation: Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: monicawe@clalit.org.il.
authors.forename: M
authors.initials: M
authors.lastname: Weisz Hubshman
authors.affiliation: First Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address: dizafeir@auth.gr.
authors.forename: D I
authors.initials: DI
authors.lastname: Zafeiriou
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel. Electronic address: azimran@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.uva.nl.
authors.forename: C E M
authors.initials: CEM
authors.lastname: Hollak
mesh_terms: D032921:Consensus; D019468:Disease Management; D005060:Europe / Q000453:epidemiology; D005776:Gaucher Disease / Q000150:complications* / Q000453:epidemiology / Q000523:psychology / Q000628:therapy*; D006801:Humans; D011788:Quality of Life
keywords: Delphi study; Gaucher disease; Management goals; PROMs; Therapy