Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Badiu, Corin; Bonomi, Marco; Borshchevsky, Ivan; Cools, Martine; Craen, Margarita; Ghervan, Cristina; Hauschild, Michael Zwicky; Hershkovitz, Eli; Hrabovszky, Erik; Juul, Anders; Kim, Yeon Joo; Kumanov, Phillip; Lecumberri, Beatriz; Lemos, Manuel C.; Neocleous, Vassos; Niedziela, Marek; Djurdjevic, Sandra Pekic; Persani, Luca; Phan-Hug, Franziska; Pignatelli, Duarte; Pitteloud, Nelly; Popović, Vera; Quinton, Richard; Skordis, Nicos; Smith, Neil; Stefanija, Magdalena Avbelj; Xu, Chao; Young, Jacques; Dwyer, Andrew A.

doi:10.1186/s13023-017-0608-2

Cited by 31 publications

(45 citation statements)

References 24 publications

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“…Patients and families have helped develop training programs for patients/families by identifying key content areas [ 43 , 44 ]. More opportunities were reported for organizations which have been involved in sharing informational resources with patients, families, and health care professionals, often through websites, toll-free hotlines, and mentoring programs [ 22 – 24 , 40 , 45 – 47 ].…”

Section: Resultsmentioning

confidence: 99%

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Young

Menon

Street

et al. 2017

Orphanet J Rare Dis

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BackgroundPatients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i.e., orphan drug lifecycle).MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. To validate the findings from the literature and identify any additional opportunities that were missed, a consultative webinar was conducted with members of the Patient and Caregiver Liaison Group of a Canadian research network.ResultsExisting and proposed opportunities for involving patients, families, and patient organizations were reported throughout the orphan drug lifecycle and fell into 12 themes: research outside of clinical trials; clinical trials; patient reported outcomes measures; patient registries and biorepositories; education; advocacy and awareness; conferences and workshops; patient care and support; patient organization development; regulatory decision-making; and reimbursement decision-making. Existing opportunities were not described in sufficient detail to allow for the level of involvement to be assessed. Additionally, no information on the impact of involvement within specific opportunities was found. Based on feedback from patients and families, documentation of existing opportunities within Canada is poor.ConclusionsOpportunities for patient, family, and patient organization involvement exist throughout the orphan drug lifecycle. However, based on the information found, it is not possible to determine which opportunities would be most effective at each stage.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0738-6) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Young

Menon

Street

et al. 2017

Orphanet J Rare Dis

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“…(2014) also found this, stating that gaining an insight into how someone copes with the day to day life of living with a rare disease would enable a deeper understanding and encourage more sympathetic communication [ 12 ]. Rare disease patients often experience a shift in their relationship with health professionals as they and their carers take on the role as the ‘experts’ [ 41 ]. Budych et al (2012) have shown improved outcomes will result from care providers recognising and acknowledging patient’s expertise and being willing to partner with them in the decision making around treatment [ 42 ].…”

Section: Discussionmentioning

confidence: 99%

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

McMullan¹,

Crowe²,

Bailie³

et al. 2020

Orphanet J Rare Dis

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Background Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018–2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI). Methods This study had 2 stages. Stage 1 was an online survey and stage 2 involved semi-structured interviews both with rare disease collaborative groups in Northern Ireland. The surveys and interviews were used to locate existing resources as well as identify gaps where the development of further resources would be appropriate. Results Ninety-nine rare disease collaborative groups engaged with the survey with 31 providing detailed answers. Resources such as information, communication, ‘registries’, online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective information and communication, training for health professionals, online presence, support for carers, and involvement in research. Conclusions All rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs, and suggests approaches to improve rare disease support.

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“…In the case of CDG and other groups who have been at the margins of decision-making, this may require the creation of participatory spaces specifically designed to enable all stakeholders to voice their concerns, find middle ground and jointly deliberate on policies, care and research sensitive to their needs, values and preferences [ 43 ]. In other words, it may require spaces in which formerly detached groups can come together to establish bidirectional partnerships [ 44 ] and uncover the elements of expert and patient knowledge that are key for the co-production of patient-centred care and research.…”

Section: Discussionmentioning

confidence: 99%

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

Freitas

Reis

Silva

et al. 2017

BMC Health Serv Res

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Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking. In this study, we engaged with the community of Congenital Disorders of Glycosylation (CDG) to assess its needs and elicit social innovations to promote people-centred care and research. Methods: Drawing on a qualitative study, we conducted three think tanks in France with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. They were selected from the registry of the Second World Conference on CDG through heterogeneity and simple random sampling. Inductive and deductive approaches were employed to conduct interpretational analysis using open, axial and selective coding, and the constant-comparison method to facilitate the emergence of categories and core themes. Results: The CDG community has unmet needs for information, quality health care, psychosocial support and representation in decision-making concerned with care and research. According to participants, these needs can be addressed through a range of social innovations, including peer-support communities, web-based information resources and a CDG expertise platform. Conclusion: This is one of the few studies to engage lay and professional experts in needs assessment and innovation for CDG at a global level. Implementing the innovations proposed by the CDG community is likely to have ethical, legal and social implications associated with the potential donation of patients' clinical and biological material that need to be assessed and regulated with involvement from all stakeholders. To promote people-centred care for the CDG community, and increase its participation in the governance of care and research, it is necessary to create participatory spaces in which the views of people affected by CDG can be fully expressed.

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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Cited by 31 publications

References 24 publications

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

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