Despite the unmet needs of patients living with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and the challenges facing a rare population with small patient numbers, now is a time of unprecedented opportunities to turn scientific breakthroughs into safe and effective treatments for families of CDD patients. New data collected for over a decade and an evolution in genetics technologies have resulted in transformational new treatments currently in development for CDD. This progress is in great part due to the patient advocacy efforts early on to drive development of stakeholder research tools necessary to de-risk industry entry into the CDD space, family participation in longitudinal natural history studies, and a robust caregiver-reported database. Cumulatively, these efforts offered new insights into CDD, specifically patterns in disease progression, helped identify the most burdensome symptoms to patients and caregivers, improved clinical trial design, and reduced financial barriers for therapeutic development for potential industry partners. This paper documents the growth of a small patient community through relationship building and collaboration. The International Foundation for CDKL5 Research is mindful of ongoing challenges namely the long research timelines, high development and production costs, and inequitable access to approved therapies. Therefore, sustaining strong early resources while recognizing opportunities that engagement, advocacy, and funding can accelerate progress remains at the heart of the agile foundation strategy.
Recognizing inflection points throughout the growth of a patient advocacy group: remaining mission focused while pivoting to achieve foundation goals Effectively operating a rare disease patient advocacy foundation presents obstacles that are difficult to anticipate, yet there is silver lining in learning from opportunities lost to regroup and refocus on our mission. The IFCR initially formed to drive research forward and support families while fostering new scientists to study the disorder. This remains the core objective and the organization has successfully contributed to the development of a robust CDD community and important research assets to facilitated research progress. On the heels of the first approved treatment for CDD, we find ourselves contemplating our future in a much different light, asking propelling questions and making tough decisions. Given the constraints that most rare disease communities face, how can we best use limited resources? How can we partner with others to realize timely progress? What gaps exist that require CDD family thought leadership and engagement along the continuum of drug development? Reflecting on past years, it is remarkable how fast science is moving. Genetic therapies are under early development for CDKL5 Deficiency Disorder. We must prepare for any future we are afforded to trial disease-modifying treatments. Multistakeholder engagement is required pre-clinically, during clinical trials and post approval.

UNASSIGNED: People in the US face high out-of-pocket medical expenses, yielding financial strain and debt.
UNASSIGNED: To understand how households respond to medical bills they disagree with or cannot afford.
UNASSIGNED: A retrospective cohort study was carried out using a survey fielded between August 14 and October 14, 2023. The study included a random sample of adult (aged ≥18 years) survey respondents from the Understanding America Study (UAS). Participant responses were weighted to be nationally representative. The analysis took place from November 3, 2023, through January 8, 2024.
UNASSIGNED: Respondents reported if their household received a medical bill that they could not afford or did not agree with in the prior 12 months, and if anyone contacted the billing office regarding their concerns. Those who did reach out were asked about their experience and those who did not were asked why.
UNASSIGNED: The survey was sent to 1233 UAS panelists, of which 1135 completed the survey, a 92.1% cooperation rate. Overall, 1 in 5 of the 1135 respondents received a medical bill that they disagreed with or could not afford. Leading bill sources were physician offices (66 [34.6%]), emergency room or urgent care (22 [19.9%]), and hospitals (31 [15.3%]), and 136 respondents (61.5%) contacted the billing office to address their concern. A more extroverted and less agreeable personality increased likelihood of reaching out. Respondents without a college degree, lower financial literacy, and the uninsured were less likely to contact a billing office. Among those who did not reach out, 55 (86.1%) reported that they did not think it would make a difference. Of those who reached out, 37 (25.7%) achieved bill corrections, better understanding (16 [18.2%]), payment plans (18 [15.5%]), price drop (17 [15.2%]), financial assistance (10 [8.1%]), and/or bill cancellation (6 [7.3%]), while 32 (21.8%) said that the issue was unresolved and 23.8% reported no change. These outcomes aligned well with respondents\' billing concerns with financial relief for 75.8% of respondents reaching out about an unaffordable bill, bill corrections for 73.7% of those who thought there was mistake, and a price drop for 61.8% of those who negotiated.
UNASSIGNED: This cross-sectional survey of a representative sample of patients in the US found that most respondents who self-advocated achieved bill corrections and payment relief. Differences in self-advocacy may be exacerbating socioeconomic inequalities in medical debt burden, as those with less education, lower financial literacy, and the uninsured were less likely to self-advocate. Policies that streamline the administrative burden or shift it from patients to the billing clinician may counter these disparities.

UNASSIGNED: Health advocacy (HA) involves purposeful actions to inform, mobilise, and organise activities to address social determinants of health affecting individuals or communities. It is a fundamental component of medical practice, deemed mandatory by professional and educational bodies. Therefore, including health advocacy training in pre- and post-graduate medical education is crucial.
UNASSIGNED: In this study, we aimed to determine the need for HA training for family physicians (FPs) based on expert opinions.
UNASSIGNED: We conducted a modified Delphi study with 105 academic experts and active FPs to explore HA training needs. Using a three-round technique, experts first answered five open-ended questions on HA competencies, teaching and assessment methods, learning environments, and integration in residency training. In the second round, statements from the responses were rated on a 5-point Likert scale, in the third round, statements below the 85% consensus level were revised and re-evaluated.
UNASSIGNED: The panel consisted of 41 experts (33 academicians, 8 practitioners) who accepted the invitation and completed the study. At the end of the three rounds, consensus was reached on 38 statements for HA competencies, 15 for teaching methods, 8 for assessment methods, and 20 for integration for HA training.
UNASSIGNED: Competencies for the HA role are very broad in perspective and show commonalities with the FPs\' \'professional\', \'expert\' and \'leader\' roles. Longitudinally integration of the HA training into the national \'Family Medicine Residency Training Core Curriculum\' through participatory processes and training of FM trainers in HA is strongly recommended.
The competencies expected for the health advocacy role of the family physicians show commonalities with the family physicians’ ‘professional’, ‘expert’ and ‘leader’ roles.It is important to longitudinally integrate health advocacy training into the family medicine residency training core curriculum at the national level.

BACKGROUND: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics.
METHODS: In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey.
RESULTS: In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%).
CONCLUSIONS: This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers.

BACKGROUND: Increased engagement with community-based practices is a promising strategy for increasing clinical trials access of diverse patient populations. In this study we assessed the ability to utilize a patient-advocacy organization led clinical network to engage diverse practices as field sites for clinical research.
METHODS: GO2 for Lung Cancer led recruitment efforts of 17 field sites from their Centers of Excellence in Lung Cancer Screening Network for participation in an implementation-effectiveness trial focused on smoking cessation integration into screening programs for lung cancer. Sites were engaged by one of three methods: 1) Pre-Grant submission of letters of support, 2) a non-targeted study information dissemination campaign to network members, and 3) proactive, targeted outreach to specific centers informed by previously submitted network member data. Detailed self-reported information on barriers to participation was collected from centers that declined to join the study.
RESULTS: Of 17 total field sites, 16 were recruited via the targeted outreach campaign and 1 via pre-grant letter of support submission. The sites covered 13 states and 4 United States geographic regions, were varied in annual screening volumes and years of screening program experience and were predominantly community-based practices (10 of 17 sites). The most reported reason (by 33% of sites) for declining to participate as a field site was inadequate staffing bandwidth for trial activities. This was especially true in community-based programs among which it was reported by 45% as a reason for declining.
CONCLUSIONS: Our results suggest that this model of field site recruitment leveraging an existing partnership between an academic research team and an informal clinical network maintained by a disease-specific patient advocacy organization can result in engagement of diverse, community-based field sites. Additionally, reported barriers to participation by sites indicate that solutions centered around providing additional resources to enable greater capacity for site staff may increase community-practice participation in research.

In New York State, the Health Care Proxy Law allows patients to designate a person they trust to make medical decisions on their behalf should they lose the capacity to do so. In an Intensive Care Unit (ICU) setting, identification of a health care proxy (HCP) is especially important as patients are at heightened risk of losing decision-making capacity during their clinical course. While our hospital has guidelines to solicit and correctly document the patient\'s HCP information, it is not routinely done. Missing or incomplete HCP documentation is a prevalent issue, with lack of patient education, physical document issues, and time and workflow constraints commonly cited as barriers. We describe the implementation of a small-scale quality improvement project to increase the percentage of completed HCP documentation in our ICU through multi-faceted interventions targeting education, workflow, access, and technology.

Non-muscle invasive bladder cancer (NMIBC) is characterised by high rates of recurrence and progression, requiring substantial healthcare resources. In Latin America, the incidence of NMIBC is set to increase due to an aging population and lifestyle changes. To better understand the current challenges for NMIBC treaters and patients, a mixed-methods approach was leveraged combining secondary research with qualitative interviews from healthcare providers in Brazil, Colombia, Mexico and Argentina. Our analysis found that significant challenges persist across the region, particularly due to Bacillus Calmette-Guérin shortages, inconsistent adherence to clinical guidelines and significant socioeconomic disparities for patients accessing healthcare services. Addressing these challenges requires improved patient advocacy, strategic use of clinical trials and better resource distribution to enhance NMIBC management across Latin America.

BACKGROUND: Although bladder cancer is much more common in men than in women, female patients with bladder cancer present with more locally advanced tumors and have worse disease-specific outcomes than male patients, even after controlling for biological differences. There is a paucity of research regarding the optimal approach to caring for female patients with bladder cancer in ways that maximize patient satisfaction, preferences, and values.
OBJECTIVE: We sought to explore patient-defined priorities and areas in need of improvement for female patients with bladder cancer from the patient perspective.
METHODS: We conducted focus group sessions and semi-structured interviews of women treated for bladder cancer to identify patient priorities and concerns until reaching topic saturation. Transcripts were analyzed thematically.
RESULTS: Eight patients with muscle-invasive bladder cancer and six patients with non-muscle-invasive bladder cancer participated in two focus groups and seven interviews total. Three themes emerged as significantly affecting the care experience: physical impacts, mental health and emotional wellbeing, and the patient-provider interaction. Each theme included patient-defined specific recommendations on approaches to optimizing the care experience for women with bladder cancer.
CONCLUSIONS: Although most participants were satisfied with the quality of care they received, they identified several opportunities for improvement. These concerns centered around enhancing support for patients\' physical and mental needs and strengthening the patient-provider interaction. Efforts to address these needs and reduce gender disparate outcomes via quality improvement initiatives are ongoing.

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BACKGROUND: The ability to self-advocate or have a say in one\'s care is integral to personalised care after acquired brain injury (ABI). This study aimed to understand what constitutes self-advocacy and associated barriers and facilitators throughout hospital transitions and into the community.
METHODS: Qualitative methodology was employed with semistructured interviews conducted with 12 people with ABI and 13 family members. Interviews were conducted at predischarge (in-person or via telephone) and 4 months postdischarge (via telephone) from the brain injury rehabilitation unit of a tertiary hospital. Data were thematically analysed using a hybrid deductive-inductive approach.
RESULTS: Self-advocacy reflects the process of reclaiming agency or people\'s efforts to exert influence over care decisions after ABI. Agency varies along a continuum, often beginning with impaired processing of the self or environment (loss of agency) before individuals start to understand and question their care (emerging agency) and ultimately plan and direct their ongoing and future care (striving for agency). This process may vary across individuals and contexts. Barriers to self-advocacy for individuals with ABI include neurocognitive deficits that limit capacity and desire for control over decisions, unfamiliar and highly structured environments and lack of family support. Facilitators include neurocognitive recovery, growing desire to self-advocate and scaffolded support from family and clinicians.
CONCLUSIONS: Self-advocacy after ABI entails a process of reclaiming agency whereby individuals seek to understand, question and direct their ongoing care. This is facilitated by neurocognitive recovery, growing capacity and desire and scaffolded supports. Research evaluating approaches for embedding self-advocacy skills early in brain injury rehabilitation is recommended.
UNASSIGNED: Two caregivers with lived experience of supporting a family member with ABI were involved in the design and conduct of this study and contributed to and provided feedback on the manuscript.