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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases.

ABSTRACT: Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare diseases, which focused on a life-course perspective rather than a disease-specific need. Methods: A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey on Research in Rare Diseases in Ireland (PCSRRDI); Phase II, Research Prioritisation Workshop (RPW); Phase III, Follow-up Public Consultation and Prioritisation Survey (FWPCPS). Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. One thousand and fifteen statements were collected, reflecting issues and shared challenges in rare diseases. A shortlisting step by step was used to identify any statements that had received a total score of above 50% into 10-12 researchable questions or statements per the theme for the phase II workshop. Phase II was focused on three main themes: (1) Route to Diagnosis, (2) Living with Rare Disease, (3) Integrated and Palliative Care. In total, 62 individuals attended the overall workshop; 42 participated in the prioritisation sessions. A cross-section of health care professionals, researchers and people living with rare diseases were engaged at each workshop. Seventy-five individuals completed the final phase III public ranking by priority responses, and they ranked the top 15 research priorities defined by the multi-stakeholders at the phase II consensus meeting. Conclusions: This study identified priorities for rare diseases research aimed at improving the health and wellbeing of people living with rare diseases.

SUBMITTER: Somanadhan S

PROVIDER: S-EPMC7702160 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

Somanadhan Suja S Nicholson Emma E Dorris Emma E Brinkley Aoife A Kennan Avril A Kennan Avril A Treacy Eileen E Atif Awan A Ennis Sean S McGrath Vicky V Mitchell Derick D O'Sullivan Grace G Power Julie J Lawlor Anne A Harkin Paul P Lynch Sally Ann SA Watt Philip P Daly Avril A Donnelly Susie S Kroll Thilo T

HRB open research 20201111

<b>Background:</b> Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. <b>Methods:</b> A participatory multiple phase approach was used to identify research p ...[more]

PMID: 33299965

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Project description:ObjectivesThis priority setting partnership was commissioned by Parkinson's UK to encourage people with direct and personal experience of the condition to work together to identify and prioritise the top 10 evidential uncertainties that impact on everyday clinical practice for the management of Parkinson's disease (PD).SettingThe UK.ParticipantsAnyone with experience of PD including: people with Parkinson's (PwP), carers, family and friends, healthcare and social care professionals. Non-clinical researchers and employees of pharmaceutical or medical devices companies were excluded. 1000 participants (60% PwP) provided ideas on research uncertainties, 475 (72% PwP) initially prioritised them and 27 (37% PwP) stakeholders agreed a final top 10.MethodsUsing a modified nominal group technique, participants were surveyed to identify what issues for the management of PD needed research. Unique research questions unanswered by current evidence were identified and participants were asked to identify their top 10 research priorities from this list. The top 26 uncertainties were presented to a consensus meeting with key stakeholders to agree the top 10 research priorities.Results1000 participants provided 4100 responses, which contained 94 unique unanswered research questions that were initially prioritised by 475 participants. A consensus meeting with 27 stakeholders agreed the top 10 research priorities. The overarching research aspiration was an effective cure for PD. The top 10 research priorities for PD management included the need to address motor symptoms (balance and falls, and fine motor control), non-motor symptoms (sleep and urinary dysfunction), mental health issues (stress and anxiety, dementia and mild cognitive impairments), side effects of medications (dyskinesia) and the need to develop interventions specific to the phenotypes of PD and better monitoring methods.ConclusionsThese research priorities identify crucial gaps in the existing evidence to address everyday practicalities in the management of the complexities of PD.

Project description:BackgroundColorectal cancer, one of the most commonly diagnosed cancers, is now being detected earlier and treatments are improving, which means that patients are living longer. Partnering with Canadian clinicians, patients and researchers, we aimed to determine research priorities for those living with early-stage colorectal cancer in Canada.MethodsWe followed the well-established priority-setting partnership outlined by the James Lind Alliance to identify and prioritize unanswered questions about early-stage (i.e., stages I-III) colorectal cancer. The study was conducted from September 2018 to September 2020. We surveyed patients, caregivers and clinicians from across Canada between June 2019 and December 2019. We categorized the responses using thematic analysis to generate a list of unique questions. We conducted an interim prioritization survey from April 2020 to July 2020, with patients, caregivers and clinicians, to determine a shorter list of questions, which was then reviewed at a final meeting (involving patients, caregivers and clinicians) in September 2020. At that meeting, we used a consensus-based process to determine the top 10 priorities.ResultsFor the initial survey, 370 responses were submitted by 185 individuals; of the 98 individuals who provided demographic information, 44 (45%) were patients, 16 (16%) were caregivers, 7 (7%) were members of an advocacy group, 26 (27%) were health care professionals and 5 (5%) were categorized as "other." The responses were refined to create a list of 66 unique unanswered questions. Twenty-five respondents answered the interim prioritization survey: 13 patients (52%), 2 caregivers (8%), 3 advocacy group members (12%) and 7 health care professionals (28%). This led to a list of the top 30 questions. The final consensus meeting involved 20 individuals (10 patients [50%], 3 caregivers [15%] and 7 health care professionals [35%]), who agreed to the top 10 research priorities. The priorities covered a range of topics, including screening, treatment, recurrence, management of adverse effects and decision-making.InterpretationWe determined the top research priorities for early-stage colorectal cancer using a collaborative partnership of stake-holders from across Canada. The priorities covered a broad range of topics that could be addressed by future research, including improved screening practices, the role of personalized medicine, the management of adverse effects of treatment, decision-making and prevention of recurrence.

Project description:ObjectiveThere are many uncertainties surrounding the aetiology, treatment and sequelae of hyperemesis gravidarum (HG). Prioritising research questions could reduce research waste, helping researchers and funders direct attention to those questions which most urgently need addressing. The HG priority setting partnership (PSP) was established to identify and rank the top 25 priority research questions important to both patients and clinicians.MethodsFollowing the James Lind Alliance (JLA) methodology, an HG PSP steering group was established. Stakeholders representing patients, carers and multidisciplinary professionals completed an online survey to gather uncertainties. Eligible uncertainties related to HG. Uncertainties on nausea and vomiting of pregnancy and those on complementary treatments were not eligible. Questions were verified against the evidence. Two rounds of prioritisation included an online ranking survey and a 1-hour consensus workshop.Results1009 participants (938 patients/carers, 118 professionals with overlap between categories) submitted 2899 questions. Questions originated from participants in 26 different countries, and people from 32 countries took part in the first prioritisation stage. 66 unique questions emerged, which were evidence checked according to the agreed protocol. 65 true uncertainties were narrowed via an online ranking survey to 26 unranked uncertainties. The consensus workshop was attended by 19 international patients and clinicians who reached consensus on the top 10 questions for international researchers to address. More patients than professionals took part in the surveys but were equally distributed during the consensus workshop. Participants from low-income and middle-income countries noted that the priorities may be different in their settings.ConclusionsBy following the JLA method, a prioritised list of uncertainties relevant to both HG patients and their clinicians has been identified which can inform the international HG research agenda, funders and policy-makers. While it is possible to conduct an international PSP, results from developed countries may not be as relevant in low-income and middle-income countries.

Project description:BACKGROUND:We report a process to identify and prioritise research questions in preterm birth that are most important to people affected by preterm birth and healthcare practitioners in the United Kingdom and Republic of Ireland. METHODS:Using consensus development methods established by the James Lind Alliance, unanswered research questions were identified using an online survey, a paper survey distributed in NHS preterm birth clinics and neonatal units, and through searching published systematic reviews and guidelines. Prioritisation of these questions was by online voting, with paper copies at the same NHS clinics and units, followed by a decision-making workshop of people affected by preterm birth and healthcare professionals. RESULTS:Overall 26 organisations participated. Three hundred and eighty six people responded to the survey, and 636 systematic reviews and 12 clinical guidelines were inspected for research recommendations. From this, a list of 122 uncertainties about the effects of treatment was collated: 70 from the survey, 28 from systematic reviews, and 24 from guidelines. After removing 18 duplicates, the 104 remaining questions went to a public online vote on the top 10. Five hundred and seven people voted; 231 (45%) people affected by preterm birth, 216 (43%) health professionals, and 55 (11%) affected by preterm birth who were also a health professional. Although the top priority was the same for all types of voter, there was variation in how other questions were ranked. Following review by the Steering Group, the top 30 questions were then taken to the prioritisation workshop. A list of top 15 questions was agreed, but with some clear differences in priorities between people affected by preterm birth and healthcare professionals. CONCLUSIONS:These research questions prioritised by a partnership process between service users and healthcare professionals should inform the decisions of those who plan to fund research. Priorities of people affected by preterm birth were sometimes different from those of healthcare professionals, and future priority setting partnerships should consider reporting these separately, as well as in total.

Project description:ObjectivesTo establish a James Lind Alliance (JLA) Priority Setting Partnership (PSP) to identify research priorities relevant to the health and social care needs of adults with lived experience of recent and/or historical sexual violence/abuse.ParticipantsAdults (aged 18+ years) with lived experience of sexual violence/abuse (ie, 'survivors') were consulted for this PSP, alongside healthcare and social care professionals who support survivors across the public, voluntary, community, independent practice and social enterprise sectors.MethodsIn line with standard JLA PSP methodology, participants completed an initial online survey to propose research questions relevant to the health and social care needs of survivors. Research questions unanswered by current evidence were identified, and a second online survey was deployed to identify respondents' priorities from this list. Questions prioritised through the second survey were presented at a consensus meeting with key stakeholders to agree the top 10 research priorities using a modified nominal group technique approach.Results223 participants (54% survivors) provided 484 suggested questions. Seventy-five unique questions unanswered by research were identified and subsequently ranked by 343 participants (60% survivors). A consensus meeting with 31 stakeholders (42% survivors) examined the top-ranking priorities from the second survey and agreed the top 10 research priorities. These included research into forms of support and recovery outcomes valued by survivors, how to best support people of colour/black, Asian and minority ethnic and lesbian, gay, bisexual, transgender, and queer (LGBTQ+) survivors, improving access to high-quality psychological therapies, reducing public misconceptions/stigma, the impact of involvement in the criminal justice system on well-being, and how physical and mental health services can become more 'trauma informed'.ConclusionsThese research priorities identify crucial gaps in the existing evidence to better support adult survivors of sexual violence and abuse. Researchers and funders should prioritise further work in these priority areas identified by survivors and the professionals who support them.

Project description:BackgroundRetinoblastoma is a childhood cancer of the eye that can have lifelong effects on patients and families. The purpose of this study was for people affected by retinoblastoma, clinicians and researchers to jointly determine the top 10 retinoblastoma research priorities in Canada.MethodsAn adaptation of the James Lind Alliance Priority Setting Partnership (PSP) methodology was employed. People were invited to participate in any stage of the priority-setting process if they were a resident of Canada, and were a patient with retinoblastoma (or a family member or friend of someone diagnosed with retinoblastoma) or a clinician or researcher interested in retinoblastoma. Patients were full partners in study design and implementation, and result dissemination, through involvement in a national working group (1 patient and 9 nonpatients) and steering committee (4 patients and 11 nonpatients). In phase 1 of the study, participants responded to an online survey that asked, "What questions about retinoblastoma would you like to see answered by research?" In phase 2, the steering committee reviewed and refined the list of survey responses and decided on a list of 30 questions to be ranked by means of the nominal group technique in phase 3, a priority-setting workshop.ResultsIn total, 175 retinoblastoma research questions were suggested by 59 survey participants (38 patients and 21 nonpatients). The categories with the greatest number of questions were genetics and molecular (45 [25.7%]), second cancer (29 [16.6%]) and psychosocial (27 [15.4%]). The top 10 questions as ranked by the workshop participants (10 patients and 10 nonpatients) fell into 7 categories: second cancer (2 questions), follow-up (2), psychosocial (2), treatment (1), diagnosis (1), global health (1) and miscellaneous (1). The early diagnosis of retinoblastoma was identified as the top retinoblastoma research priority in Canada.InterpretationThe list of priorities will serve as a resource for advocacy groups, research teams and funding agencies that focus on retinoblastoma. The inclusion of researchers as participants was an adaptation of the James Lind Alliance PSP methodology and enriched the research prioritization process.

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases.

Publications

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

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