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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.

ABSTRACT: OBJECTIVES: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. DESIGN AND SETTING: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' free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ?3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ?4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. RESULTS: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 >95% at all stages. CONCLUSIONS:PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised.

SUBMITTER: Hughes DA

PROVIDER: S-EPMC7549469 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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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.

Hughes Derralynn A DA Aguiar Patricio P Deegan Patrick B PB Ezgu Fatih F Frustaci Andrea A Lidove Olivier O Linhart Aleš A Lubanda Jean-Claude JC Moon James C JC Nicholls Kathleen K Niu Dau-Ming DM Nowak Albina A Ramaswami Uma U Reisin Ricardo R Rozenfeld Paula P Schiffmann Raphael R Svarstad Einar E Thomas Mark M Torra Roser R Vujkovac Bojan B Warnock David G DG West Michael L ML Johnson Jack J Rolfe Mark J MJ Feriozzi Sandro S

BMJ open 20201010 10

<h4>Objectives</h4>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.<h4>Design and setting</h4>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 tw ...[more]

PMID: 33039984

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Project description:In late 2005, the federal and provincial governments responded to an increasing demand from physicians and their patients with Fabry disease for access to enzyme replacement therapy (ERT). This response took the form of a nationwide clinical research study, the Canadian Fabry Disease Initiative (CFDI). Patients who enrolled as participants in this longitudinal study received 1 of 2 ERT treatments. The present study used a qualitative evaluative approach to describe the perspectives of various key stakeholders regarding the CFDI and its potential as a model for providing access to expensive drugs for rare diseases.The CFDI was evaluated from the perspectives of 4 groups of key informants: patients, CFDI investigators, policy-makers and pharmaceutical manufacturers. The qualitative methods strategy used for the study involved semistructured interviews, a holistic-inductive design and content analysis.Eighteen participants were interviewed. The study revealed that stakeholders held the following perceptions about the CFDI. The CFDI was created as a response to a drug reimbursement problem in Canada. Through specialist physicians, the CFDI has provided ERT to patients with Fabry disease across the country. The CFDI established a national database for collecting and monitoring the incidence of Fabry disease and information about ERT. The CFDI represented a collaborative effort among the various stakeholders (federal, provincial, pharmaceutical), but no stakeholder group thought that the CFDI was the correct response to the need for access to ERT. Finally, the CFDI can and should be redesigned, through modification of either its governing structure or its outcome goals.The CFDI was a prototype for sharing the costs of expensive therapies for rare diseases. It has provided ERT to many patients with Fabry disease for several years. However, it was poorly designed to meet its outcome goals and has been unable to provide therapy to all individuals with the disease. Therefore, many stakeholders saw this initiative as an inappropriate solution.The CFDI has not met the expectations of key informant groups and some modifications may be necessary. A registry study might better accomplish the CFDI's original goals of providing access to treatment, gathering data and monitoring patients' progress.

Project description:BackgroundCurrent approaches to support patients living with post-COVID condition, also known as Long COVID, are highly disparate with limited success in managing or resolving a well-documented and long-standing symptom burden. With approximately 2.1 million people living with the condition in the UK alone and millions more worldwide, there is a desperate need to devise support strategies and interventions for patients.MethodsA three-round Delphi consensus methodology was distributed internationally using an online survey and was completed by healthcare professionals (including clinicians, physiotherapists, and general practitioners), people with long COVID, and long COVID academic researchers (round 1 n = 273, round 2 n = 186, round 3 n = 138). Across the three rounds, respondents were located predominantly in the United Kingdom (UK), with 17.3-15.2% (round 1, n = 47; round 2 n = 32, round 2 n = 21) of respondents located elsewhere (United States of America (USA), Austria, Malta, United Arab Emirates (UAE), Finland, Norway, Malta, Netherlands, Iceland, Canada, Tunisie, Brazil, Hungary, Greece, France, Austrailia, South Africa, Serbia, and India). Respondents were given ∼5 weeks to complete the survey following enrolment, with round one taking place from 02/15/2022 to 03/28/22, round two; 05/09/2022 to 06/26/2022, and round 3; 07/14/2022 to 08/09/2022. A 5-point Likert scale of agreement was used and the opportunity to include free text responses was provided in the first round.FindingsFifty-five statements reached consensus (defined as >80% agree and strongly agree), across the domains of i) long COVID as a condition, ii) current support and care available for long COVID, iii) clinical assessments for long COVID, and iv) support mechanisms and rehabilitation interventions for long COVID, further sub-categorised by consideration, inclusion, and focus. Consensus reached proposes that long COVID requires specialised, comprehensive support mechanisms and that interventions should form a personalised care plan guided by the needs of the patients. Supportive approaches should focus on individual symptoms, including but not limited to fatigue, cognitive dysfunction, and dyspnoea, utilising pacing, fatigue management, and support returning to daily activities. The mental impact of living with long COVID, tolerance to physical activity, emotional distress and well-being, and research of pre-existing conditions with similar symptoms, such as myalgic encephalomyelitis, should also be considered when supporting people with long COVID.InterpretationWe provide an outline that achieved consensus with stakeholders that could be used to inform the design and implementation of bespoke long COVID support mechanisms.FundingNone.

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Dataset Information

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.

Publications

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.

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