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

Abstract

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.

Keywords: advanced therapeutics; paediatric neurology; patient advocacy; precision medicine; rare diseases.

Figure 1

A graphical summary of themes around the perspectives, relationships and experiences of RDPO leaders in advanced neurotherapeutic development. Themes are bolded and centrally located. Subthemes are listed as bullet points in outside boxes. RDPO, rare disease patient organization; RND, rare neurological disease.

Figure 2

The information practices and understandings of advanced neurotherapeutics among RDPO leaders. Data were collected from 19 survey respondents. Endorsement included results with ‘agree and strongly agree’. RDPO, rare disease patient organization.

Figure 3

Opinions regarding the risks and benefits of advanced neurotherapeutics and advanced neurotherapeutic clinical trials. Data were collected from 19 survey respondents. Results were categorized as follows: ‘somewhat disagree and disagree’ = red; ‘neither agree nor disagree’ = grey and ‘agree and somewhat agree’ = blue.

Figure 4

A thematic map outlining the relationships between RDPO roles, interactions, information and psychosocial support needs and recommendations for healthcare professionals involved in advanced neurotherapeutic development. Colour shadings are as follows: major themes = blue; most relevant subthemes = green; recommendations = orange. Themes and subthemes are denoted as rectangles. Recommendations are denoted as circles. RDPO, rare disease patient organization.