Protocol for an eDelphi study to identify consensus on policy metrics which should be included in future assessments of the England Rare Diseases Action Plans

Introduction: Governments create policies to address societal needs and then assess their effectiveness through policy metrics. The UK Rare Diseases Framework and its England Rare Diseases Action Plans aim to improve the lives of people with lived experience of rare diseases and their carers. Reaching these goals requires more effective engagement with those least likely to interact with NHS services. This paper outlines a protocol to identify relevant high-level policy metrics while engaging underserved and underrepresented groups. Methods and Analysis: A long list of candidate metrics for the 36 Actions linked to the four Priority Areas of the Framework was compiled from government logic models. The list was discussed in three workshops, and irrelevant, ambiguous, or time-irrelevant metrics were removed. Additional metrics were identified through an evidence review and expert opinion. In the first round of a two-round eDelphi study, shortlisted metrics will be grouped into the four Priority Areas: Faster Diagnosis, Increased Healthcare Professional Awareness, Better Care Coordination, and Improved Access to Specialist Care, Treatment, and drugs. An eDelphi panel of 50 people living with rare disease or their carers, as well as 50 professional stakeholders, will rate each metric on a 1-9 scale. The sample size allows for 20% attrition. Consensus for inclusion or exclusion will be based on 70% agreement (7-9 for 'very valuable', 1-3 for 'not valuable'), with fewer than 15% rating the metric at the opposite end of the scale. Metrics will be included or excluded if consensus is reached in both groups; otherwise, they will remain under consideration in Round 2. In Round 1, eDelphi participants may propose additional metrics, which will be included in Round 2. After two rounds, a final set of policy metrics will be selected. Any discrepancies in Round 2 ratings will be explored through further research. Ethics and Dissemination: The Coventry University Group Research Ethics Committee has approved the study (P183377). The results will be disseminated to people with lived experience of rare disease and professional stakeholders through conferences, events, and newsletters and submitted to a peer-reviewed journal. If adopted, the identified metrics will inform decision-making on rare disease policies in England and beyond. Registration Details: ISRCTN41639707Competing Interest StatementAll authors have completed the ICMJE Uniform Disclosure Form. They declare funding from the National Institute for Health and Care Research and no support from any commercial organisation for the submitted work. Coventry University has provided in-kind support for PAW and AS in relation to their contributions to this study. JG and LB, through Realise Advocacy Ltd, have received financial support from patient advocacy groups and industry stakeholders for consultancy services related to patient involvement in drug development and Health Technology Assessment. JG leads JG Zebra Consulting, which provides international and national strategic consultancy services specialising in rare diseases and novel therapies, focusing on market access, public policy, and stakeholder engagement. LB chairs the Board of Trustees at Medics 4 Rare Diseases. LB and RL are members of the Rare Diseases Advisory Group (RDAG), which advises NHS England and the devolved administrations on the development, implementation, and national commissioning of highly specialised services for rare diseases. PG is a co-inventor on five filed patents in rare disease therapeutics and has received support for meeting attendance and medical writing.Clinical Protocolshttps://www.isrctn.com/ISRCTN41639707Funding StatementThis work is independent research funded by the National Institute for Health and Care Research (NIHR) [RareCare, NIHR205983]. The views expressed in this publication are those of the author(s) and not necessarily those of NIHR or The Department of Health and Social Care.Author DeclarationsI confirm all relevant ethical guidelines have been followed, and any necessary IRB nd/or ethics committee approvals have been obtained.YesThe details of the IRB/oversight body that provided approval or exemption for the research described are given below:The Coventry University Group Research Ethics Committee has approved the study (P183377).I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.YesI understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.YesGiven the small field of rare diseases, we will report findings for larger stakeholder groups (minimum of five people) to minimise the risk of indirect identification. Anonymised group-level data will be stored in an open-access repository and assigned a DOI to ensure long-term accessibility and ease of citation.