{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:00:24Z","timestamp":1791216024794,"version":"4.1.0"},"reference-count":27,"publisher":"BMJ","issue":"10","license":[{"start":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T00:00:00Z","timestamp":1602201600000},"content-version":"unspecified","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Shire International GmbH","award":["IME-GBR-15474"],"award-info":[{"award-number":["IME-GBR-15474"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2020,7,16]]},"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and setting<\/jats:title>\n                    <jats:p>Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central\/peripheral nervous system (CNS\/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists\u2019 free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring \u22653 among &gt;75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score \u22654 by &gt;67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if &gt;75% of panellists agreed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS\/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS\/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic\/diastolic dysfunction, elevated serum cardiac troponin; (CNS\/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities\/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms\/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was &gt;95% at all stages.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2019-035182","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T13:35:15Z","timestamp":1602336915000},"page":"e035182","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":37,"title":["Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative"],"prefix":"10.1136","volume":"10","author":[{"given":"Derralynn A","family":"Hughes","sequence":"first","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK"},{"name":"Department of Haematology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricio","family":"Aguiar","sequence":"additional","affiliation":[{"name":"Inborn Errors of Metabolism Reference Center, North Lisbon Hospital Center, Lisbon, Portugal"},{"name":"Medicine Department, University of Lisbon, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick B","family":"Deegan","sequence":"additional","affiliation":[{"name":"Lysosomal Disorders Unit, Addenbrooke\u2019s Hospital, Cambridge, UK"},{"name":"Department of Medicine, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department and Laboratory of Paediatric Metabolic Disorders, Gazi University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5748-0725","authenticated-orcid":false,"given":"Andrea","family":"Frustaci","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Geriatric and Anesthesiologic Sciences, University of Rome La Sapienza, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lidove","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine-Rheumatology, Croix Saint Simon Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ale\u0161","family":"Linhart","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech 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