The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review

Nguyen, Christina Q.; Concepcion, Kristine; Palmer, Elizabeth E.; Scully, Jackie Leach; Millis, Nicole; Farrar, Michelle A.

doi:10.1186/s13023-022-02317-6

Cited by 14 publications

(10 citation statements)

References 70 publications

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“…47,66 International patient organisations such as the International Patient Organisation for Primary Immunodeficiencies (IPOPI), national primary immunodeficiency charities and patient advocacy groups have a vital role in raising awareness and promoting a culture of shared learning by providing accurate up to date information, supporting the education of patients, families and multi-disciplinary clinicians alike. 47,48,67,68 Such positive partnerships have shown value from the involvement and engagement of patients and families in both clinical and strategic protocol research and design, with improved patient opportunity in study design acceptability and recruitment, and also in the dissemination and evaluation of results. [67][68][69][70] However, it remains important to implement supportive guidance to safeguard ethical relationships and to manage bias and incentive for experience.…”

Section: Treatment Accessibilitymentioning

confidence: 99%

Congenital Athymia: Unmet Needs and Practical Guidance

Howley¹,

Davies²,

Kreins³

2023

TCRM

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Inborn errors of thymic stromal cell development and function which are associated with congenital athymia result in lifethreatening immunodeficiency with susceptibility to infections and autoimmunity. Athymic patients can be treated by thymus transplantation using cultured donor thymus tissue. Outcomes in patients treated at Duke University Medical Center and Great Ormond Street Hospital (GOSH) over the past three decades have shown that sufficient T-cell immunity can be recovered to clear and prevent infections, but post-treatment autoimmune manifestations are relatively common. Whilst thymus transplantation offers the chance of long-term survival, significant challenges remain to optimise the outcomes for the patients. In this review, we will discuss unmet needs and offer practical guidance based on the experience of the European Thymus Transplantation programme at GOSH. Newborn screening (NBS) for severe combined immunodeficiency (SCID) and routine use of next-generation sequencing (NGS) platforms have improved early recognition of congenital athymia and increasing numbers of patients are being referred for thymus transplantation. Nevertheless, there remain delays in diagnosis, in particular when the cause is genetically undefined, and treatment accessibility needs to be improved. The majority of athymic patients have syndromic features with acute and chronic complex health issues, requiring life-long multidisciplinary and multicentre collaboration to optimise their medical and social care. Comprehensive follow up after thymus transplantation including monitoring of immunological results, management of co-morbidities and patient and family quality-of-life experience, is vital to understanding long-term outcomes for this rare cohort of patients. Alongside translational research into improving strategies for thymus replacement therapy, patient-focused clinical research will facilitate the design of strategies to improve the overall care for athymic patients.

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Section: Treatment Accessibilitymentioning

confidence: 99%

Congenital Athymia: Unmet Needs and Practical Guidance

Howley¹,

Davies²,

Kreins³

2023

TCRM

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“…Likewise, advances in genomic technologies have facilitated novel breakthrough therapies, whose global developments, regulatory approvals, and con ned governmental subsidisations have stimulated renewed hope amongst rare disease patient organisations (RDPOs). With intensifying optimism characterising the therapeutic landscape, researcher-advocate partnerships have reached an in ection point, at which stakeholders may evaluate their achievements and formulate frameworks for future re nement [14].…”

Section: Data Relevance To Collaborative Research and Rare Disease Dr...mentioning

confidence: 99%

The future of Rare Disease Drug development: the Rare Disease Cures Accelerator Data Analytics Platform (RDCA-DAP)

Barrett

Betourne

Walls

et al. 2023

Preprint

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Rare disease drug development is wrought with challenges not the least of which is access to the limited data currently available throughout the rare disease ecosystem where sharing of the available data is not guaranteed. Most pharmaceutical sponsors seeking to develop agents to treat rare diseases will initiate data landscaping efforts to identify various data sources that might be informative with respect to disease prevalence, patient selection and identification, disease progression and any data projecting likelihood of patient response to therapy including any genetic data. Such data are often difficult to come by for highly prevalent, mainstream disease populations let alone for the 8000 rare disease that make up the pooled patient population of rare disease patients. The future of rare disease drug development will hopefully rely on increased data sharing and collaboration among the entire rare disease ecosystem. One path to achieving this outcome has been the development of the rare disease cures accelerator, data analytics platform (RDCA-DAP) funded by the US FDA and operationalized by the Critical Path Institute. FDA intentions were clearly focused on improving the quality of rare disease regulatory applications by sponsors seeking to develop treatment options for various rare disease populations. As this initiative moves into its second year of operations it is envisioned that the increased connectivity to new and diverse data streams and tools will result in solutions that benefit the entire rare disease ecosystem and that the platform becomes a Collaboratory for engagement of this ecosystem that also includes patients and caregivers.

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“…In this novel therapeutic domain, there is an urgency to understand RDPO's scope of practice, interstakeholder partnerships, information requirements and psychosocial needs. Greater insights into these fields are imperative if clinical development is to maximally benefit from RDPO expertise 38 …”

Section: Introductionmentioning

confidence: 99%

“…Greater insights into these fields are imperative if clinical development is to maximally benefit from RDPO expertise. 38 Due to the relative paucity of original research, a mixed methodology approach was selected to analyse the complex perspectives of RDPO leaders operating within advanced neurotherapeutics. This study's research aims were to evaluate:…”

Section: Introductionmentioning

confidence: 99%

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‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics

Nguyen

Kariyawasam

Concepcion

et al. 2022

Health Expectations

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Introduction Biomedical progress has facilitated breakthrough advanced neurotherapeutic interventions, whose potential to improve outcomes in rare neurological diseases has increased hope among people with lived experiences and their carers. Nevertheless, gene, somatic cell and other advanced neurotherapeutic interventions carry significant risks. Rare disease patient organizations (RDPOs) may enhance patient experiences, inform expectations and promote health literacy. However, their perspectives are understudied in paediatric neurology. If advanced neurotherapeutics is to optimize RDPO contributions, it demands further insights into their roles, interactions and support needs. Methods We used a mixed‐methodology approach, interviewing 20 RDPO leaders representing paediatric rare neurological diseases and following them up with two online surveys featuring closed and open‐ended questions on advanced neurotherapeutics (19/20) and negative mood states (17/20). Qualitative and quantitative data were analysed using thematic discourse analysis and basic descriptive statistics, respectively. Results Leaders perceived their roles to be targeted at educational provision (20/20), community preparation for advanced neurotherapeutic clinical trials (19/20), information simplification (19/20) and focused research pursuits (20/20). Although most leaders perceived the benefits of collaboration between stakeholders, some cited challenges around collaborative engagement under the following subthemes: conflicts of interest, competition and logistical difficulties. Regarding neurotherapeutics, RDPO leaders identified support needs centred on information provision, valuing access to clinician experts and highlighting a demand for co‐developed, centralized, high‐level and understandable, resources that may improve information exchange. Leaders perceived a need for psychosocial support within themselves and their communities, proposing that this would facilitate informed decision‐making, reduce associated psychological vulnerabilities and maintain hope throughout neurotherapeutic development. Conclusion This study provides insights into RDPO research activities, interactions and resource needs. It reveals a demand for collaboration guidelines, central information resources and psychosocial supports that may address unmet needs and assist RDPOs in their advocacy. Patient or Public Contribution In this study, RDPO leaders were interviewed and surveyed to examine their perspectives and roles in advanced neurotherapeutic development. Some participants sent researchers postinterview clarification emails regarding their responses to questions.

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The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review

Cited by 14 publications

References 70 publications

Congenital Athymia: Unmet Needs and Practical Guidance

Congenital Athymia: Unmet Needs and Practical Guidance

The future of Rare Disease Drug development: the Rare Disease Cures Accelerator Data Analytics Platform (RDCA-DAP)

‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics

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