Patient Advocacy Groups Research Articles

Primary Ovarian Insufficiency: A Case of the Cart before the Horse

Overt Primary Ovarian Insufficiency (POI) is a rare disorder characterized by a constellation of other rare conditions, posing significant diagnostic and management challenges. This disorder necessitates a global mechanism for information exchange, streamlined data sharing, dynamic international partnerships, and the integration of artificial intelligence to enhance diagnostic accuracy through next-generation sequencing and specific antibody testing. Empowering women with POI involves providing them with access to the best available evidence at the point of care and facilitating informed decisions throughout their health journey. A key strategy is transcending the traditional biomedical model by adopting a population-based approach that encourages global cross-sectional collaboration. Optimal care for women with POI is achieved through an integrated, multidisciplinary approach that leverages diverse expertise to evaluate evidence and update care practices effectively. Initiatives are also underway to establish a patient advocacy group, emphasizing the importance of early diagnosis in allowing women to adapt family planning or preserve fertility. The overarching vision for POI research and care aims to cultivate proactive international partnerships and data sharing, driven by the needs and experiences of women with Overt POI.

French national survey on breast cancer care: caregiver and patient views

PurposeTo improve the quality of care for patients with breast cancer, an analysis of the health-care pathway, considering feedback from both health-care practitioners (HCPs) and patients, is needed.MethodsBetween 2020 and 2022, we conducted a survey at French breast cancer centers and analyzed information from questionnaires completed by HCPs and patients. We collected information on center organization, diagnostic processes, treatment decisions and modalities, supportive care, patient advocacy groups, and work issues.ResultsTwenty-three breast cancer centers were included and questionnaires completed by 247 HCPs and 249 patients were analyzed. The centers closely followed the legal French framework for cancer treatments, which includes formal diagnostic announcements, multidisciplinary tumor boards, personalized treatment summaries, and supportive care access. HCPs and patients were satisfied with the time to diagnosis (≤ 2 weeks as evaluated by 75% of patients), time to surgery (mean 61 days), time between surgery and chemotherapy (mean 47 days), and time between surgery and radiotherapy (mean 81 days). Fertility preservation counseling for women under 40 years of age was systematically offered by 67% of the HCPs. The majority (67%) of the patients indicated that they had received a personalized treatment summary; the topics discussed included treatments (92%), tumor characteristics (84%), care pathways (79%), supportive care (52%), and breast reconstruction (33%). Among HCPs, 44% stated that reconstructive surgery was offered to all eligible patients and 57% and 45% indicated coordination between centers and primary care physicians for adverse effects management and access to supportive care should be improved, for chemotherapy and radiotherapy, respectively. Regarding patient advocacy groups, 34% of HCPs did not know whether patients had contact and only 23% of patients declared that they had such contact. For one-third of working patients, work issues were not discussed. Twenty-eight percent of patients claimed that they had faced difficulties for supportive care access. Among HCPs, 13% stated that a formal personalized survivorship treatment program was administered to almost all patients and 37% almost never introduced the program to their patients. Compliance to oral treatments was considered very good for 75–100% of patients by 62% of HCPs.ConclusionsThis study provides an updated analysis of breast cancer care pathways in France. Overall, the initial processes of diagnosis, announcement, and treatment were swift and were in agreement with the best care standards. No barriers to accessing care were identified. Based on the study findings, we proposed several strategies to improve the quality of care for patients in supportive care, coordination with primary care physicians, reconstructive surgery, and fertility preservation access.

Patient Advocates for Clinical Research (PACER): A Step Toward Ethical, Relevant, and Truly Participatory Clinical Research in India.

Background Clinical research presents a promising path for improving healthcare in contemporary India. Yet, researchers identify gaps in trust, awareness, as well as misconceptions about being a '"guinea pig." We proposed building the capacity of training patient advocacy groups (PAGs) in patient-centered clinical research and through them creating aware patients as research partners. Methodology Patient Advocates for Clinical Research (PACER) is a tiered program to share information and education about clinical research with PAGs. Tier one is a self-paced online learning course, followed by workshops on clinical research, Good Clinical Practice, research consent, case studies, and group discussions. Results A total of 20 PAGs represented by 48 participants, active in areas of pediatric cancer, breast cancer, multiple myeloma, type I diabetes, spinal muscular atrophy, sickle cell disease, and inflammatory bowel diseases, participated. Among 48 participants 30 successfully completed the online course (multiple-choice question evaluation score cut-off >70%), attaining an average score of 23.9 ± 2.1 out of 30. Overall, 48 participants attended workshop 1 and 45 workshop 2, with 140 participants joining the focus group discussion (FGD). An overall improvement of 9.4% (𝜒2 = 46.173; p < 0.001) for workshop 1 and 8.2% (𝜒2 = 25.412; p < 0.001) for workshop 2 was seen in knowledge gain about clinical research. The FGD raised issues such as misleading information from research teams, unethical recruitment, incomprehensible information sheets, and limited trial-related knowledge fostering fear of participation in clinical research. Conclusions Multimodal and tiered learning of clinical research such as that used by PACER has a good participatory and learning response from PAGs and may be further explored.

Abstract LB088: CANCollaborate: Transforming rare cancer research through cooperation and collaboration

Abstract CANCollaborate is a groundbreaking initiative focused on revolutionizing rare cancer research through global cooperation and was founded upon the realization that collective action is crucial for effectively addressing the myriad rare forms of cancer. Rare cancers typically have outdated treatment guidelines, a lack of targeted therapy options due to insufficient research into their biology, and consequently, a failure to keep pace with the advancements in survival outcomes seen in more common cancers over the past few decades. The initiative is rooted in five core premises: the shared goal of all stakeholders to improve rare cancer care, the prevalence of rare cancers constituting a substantial global burden, the scattered nature of rare cancer researchers and resources, existing disincentives hindering collaboration, and the untapped potential of coordinated efforts. CANCollaborate addresses these challenges by fostering open communication, encouraging cooperation, and creating collaborations among researchers, institutions, pharmaceutical and biotech companies, patient advocacy groups, financiers, and regulators. The first focus is on appendiceal cancer (AC). AC is exceedingly rare, affecting 1 to 2 people per million, but incidence has been increasing with one study seeing a 232% increase in the U.S. between 2000 and 2016. For some subtypes of AC, management is extrapolated from colorectal cancer (CRC) guidelines, even though it was established that AC is molecularly distinct from CRC. Coordinated collaboration is essential in advancing the field, given that many physicians involved in treating and researching appendiceal cancer often have it as a secondary focus, rather than being their primary area of concentration. In our brief existence, we've successfully facilitated collaborations for appendiceal organoid generation and testing by connecting a leading organoid scientist with a physician who sees AC patients. Additionally, we have established collaborations with a biotech company with an ex-vivo drug testing platform to surgical oncologists for commencing AC susceptibility testing to potential therapeutics. Key components of CANCollaborate include regular communication, frequent workshops, promoting transparency, and sharing research developments, challenges, and results. By forming collaborations among diverse stakeholders, CANCollaborate seeks to diversify and de-risk rare cancer research by eliminating existing disincentives by rewarding collaborative efforts and fostering new forms of incentives, transforming high-risk, low-return efforts into high-return, low-risk endeavors. CANCollaborate invites all stakeholders in the field of cancer research to join by working together, sharing knowledge, and creating a global network. Together we can accelerate progress, eliminate redundancy, and ultimately contribute to the eradication of cancer. Citation Format: Jamie Barber, Kyra Itskowitz, Jane Wilkinson. CANCollaborate: Transforming rare cancer research through cooperation and collaboration [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 2 (Late-Breaking, Clinical Trial, and Invited Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(7_Suppl):Abstract nr LB088.

Perspectives of European Patient Advocacy Groups on Volunteer Registries and Vaccine Trials: VACCELERATE Survey Study.

The VACCELERATE Pan-European Scientific network aims to strengthen the foundation of vaccine trial research across Europe by following the principles of equity, inclusion, and diversity. The VACCELERATE Volunteer Registry network provides access to vaccine trial sites across the European region and supports a sustainable volunteer platform for identifying potential participants for forthcoming vaccine clinical research. The aim of this study was to approach members of patient advocacy groups (PAGs) across Europe to assess their willingness to register for the VACCELERATE Volunteer Registry and their perspectives related to participating in vaccine trials. In an effort to understand how to increase recruitment for the VACCELERATE Volunteer Registry, a standardized survey was developed in English and translated into 8 different languages (Dutch, English, French, German, Greek, Italian, Spanish, and Swedish) by the respective National Coordinator team. The online, anonymous survey was circulated, from March 2022 to May 2022, to PAGs across 10 European countries (Belgium, Cyprus, Denmark, France, Germany, Greece, Ireland, Italy, Spain, and Sweden) to share with their members. The questionnaire constituted of multiple choice and open-ended questions evaluating information regarding participants' perceptions on participating in vaccine trials and their willingness to become involved in the VACCELERATE Volunteer Registry. In total, 520 responses were collected and analyzed. The PAG members reported that the principal criteria influencing their decision to participate in clinical trials overall are (1) the risks involved, (2) the benefits that will be gained from their potential participation, and (3) the quality and quantity of information provided regarding the trial. The survey revealed that, out of the 520 respondents, 133 individuals across all age groups were "positive" toward registering in the VACCELERATE Volunteer Registry, with an additional 47 individuals reporting being "very positive." Respondents from Northern European countries were 1.725 (95% CI 1.206-2.468) times more likely to be willing to participate in the VACCELERATE Volunteer Registry than respondents from Southern European countries. Factors discouraging participants from joining vaccine trial registries or clinical trials primarily include concerns of the safety of novel vaccines and a lack of trust in those involved in vaccine development. These outcomes aid in identifying issues and setbacks in present registries, providing the VACCELERATE network with feedback on how to potentially increase participation and enrollment in trials across Europe. Development of European health communication strategies among diverse public communities, especially via PAGs, is the key for increasing patients' willingness to participate in clinical studies.

Navigating the Landscape of Medical Device Advisories: A Special Report From the Canadian Heart Rhythm Society Device Advisory Committee

Cardiac implantable electronic devices (CIEDs) are often important for regulating cardiac rate and rhythm. Pacemakers and defibrillators are among the top 10 most implanted medical devices, with > 1.5 million devices implanted annually. Although millions of patients have benefited with improved quality of life and survival, CIED systems are becoming increasingly complex and do not always perform according to expectations. Advisory notices communicate important information about the safety and performance of a medical device to health care providers and patients. Medical device recalls are common, with > 35 unique device recalls in the past 5 years. From an ethical standpoint, CIED recalls highlight a range of considerations including the consent process, duty to report, how best to promote autonomous decision-making, trust in the health care system, as well as disproportionate effects of these considerations on equity-deserving groups. The purpose of the current article is to review and advise regarding the process around medical device advisory and recall, with a specific focus on clinicians caring for patients affected by these devices. We have sought the input of a lawyer, a patient advocacy group, and an ethicist to guide the clinical management of, and communications regarding, device recalls and advisories. Diligent surveillance and a clear, transparent patient consent process regarding these small but potentially serious device anomalies is paramount in ensuring patients believe they are safe and informed. Meaningful patient engagement helps to ensure optimal communication and disclosure mechanisms before implantation and throughout follow-up, accessibility of information in the initial implant and recall action process, and trust in health care systems and providers.

Rethinking Schizophrenia: Beyond the Voices of Schizophrenia

Introduction Despite improvements and innovation in recent years, people living with schizophrenia face variations in access to optimal treatment and care. There is a lot about schizophrenia that is not fully understood, and the high-quality care and support needed by people living with this condition is often unavailable.Objectives Develop an evidence-based, compelling policy narrative on schizophrenia Engage a pan-European, multidisciplinary group of experts Offer concrete tools to patient and professional advocacy groups Disseminate findings Draw from our findings practical solutions on how to implement recommendationsMethods Based on carefully selected existing literature and available resources, literature review includes but is not limited to: Value of Treatment Recommendations, Global Burden of Disease Study, Comprehensive Mental Health Action Plan, Mental Health Atlas. The aim is to establish state of play, identify problems and solutions and take stock of current recommendations.We established a multi-disciplinary working group to lead the project, and ensured that representation on this group is cross-disciplinary and cross-sector. The expert group includes country-level patient advocates and clinical leads including key opinion leaders (KOLs) to keep the project focused on what is happening at a national level, and to help create ownership at the national level to take recommendations forward within each country.We conducted qualitative semi-structured interviews with people living with schizophrenia where they provided their insights into how to rethink the way we deal with schizophrenia.ResultsProvide clear, concrete and adaptable solutions Joint ownership by key stakeholder groups of a common policy narrative on schizophrenia Sustained policy engagement on schizophrenia at the EU and national levelConclusionsThere is a clear need to rethink the management of schizophrenia and redesign the care pathways to ensure optimal treatment and care for all people living with schizophrenia in Europe. Based around patient testimonies, the aim of the session is to highlight the need to optimise the way we manage schizophrenia by building a strong, coherent, evidence-based policy narrative which speaks to the current priorities in schizophrenia and draws from the current policy landscape in Europe.Experts involved in the Rethinking Schizophrenia project, coordinated by the European Brain Council, have explored the ways in which we can and need to change the way we deal with schizophrenia. The Rethinking Schizophrenia project falls under the Rethinking the management of brain disorders series, research-driven projects offering policy recommendations to make tangible changes with the aim to improve the lives of people living with brain disorders, neurological and mental alike, across Europe.Disclosure of InterestNone Declared

The psychological burden of NMOSD - a mixed method study of patients and caregivers.

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disorder of the central nervous system with common symptoms of rapid onset of eye pain, loss of vision, neck/back pain, paralysis, bowel and bladder dysfunction and heat sensitivity. The rare, unpredictable, and debilitating nature of NMOSD constitutes a unique psychological burden for patients and their caregivers, the specific nature and extent of which is not yet known. This mixed methods study, informed by both quantitative and qualitative data collected via self-report measures, focus groups, and in-depth interviews, aims to investigate and understand the psychological burden of patients with NMOSD and their caregiver/loved ones, so as to inform a specialized intervention. 31 adults living with NMOSD and 22 caregivers of people with NMOSD in the United States and Canada, recruited from NMOSD patient advocacy groups, social media groups, and through word of mouth from other participants, completed a battery of standardized self-report measures of anxiety, depression, trauma, cognitive fusion, valued living, and coping styles. Semi-structured focus group sessions were conducted via HIPAA-compliant Zoom with 31 patients, and separate focus groups were conducted with 22 caregivers. A subset of these samples, comprised of 16 patients and 11 caregivers, participated in individual semi-structured interviews, prioritizing inclusion of diverse perspectives. Descriptive statistics and bivariate correlations were run on quantitative self-report data using SPSS [Version 28.0.1]; data were stored in REDCap. Reflexive thematic analysis was employed regarding qualitative individual interview data. The majority of patients reported experiencing anxiety, depression, cognitive fusion, over-controlled coping, and lack of values-based living. Caregivers also reported heightened anxiety, cognitive fusion, and over-controlled coping, although they did not endorse clinically significant depression. Patient and caregiver degree of anxiety and of overcontrolled coping were both strongly positively correlated, likely affecting how both parties manage NMOSD-related stressors, both individually and as a dyad. Patients reported more anxiety, depression, psychological inflexibility, and lack of values-based living, compared with caregivers. Patient and caregiver narrative themes included mistrust of medical professionals, lack of support immediately following diagnosis, changes in relationships, deviation from values-based living, internalization of feelings, and avoidant coping strategies to manage the psychological burden of NMOSD. A novel mental health intervention targeting the specific psychological burden of life with NMOSD is proposed.

Generating strategies for a national comeback in pancreas transplantation: A Delphi survey and US conference report

In the United States, potential transplant candidates with insulin-dependent diabetes mellitus are inconsistently offered pancreas transplantation (PTx), contributing to a dramatic decline in pancreas allograft utilization over the past 2 decades. The American Society of Transplantation organized a workshop to identify barriers inhibiting PTx and to develop strategies for a national comeback. The 2-day workshop focused on 4 main topics: (1) referral/candidate selection, (2) organ recovery/utilization, (3) program performance/patient outcomes, and (4) enhanced education/research. Topics were explored through expert presentations, patient testimonials, breakout sessions, and strategic planning, including the identification of tasks for immediate focus. Additionally, a modified-Delphi survey was conducted among workshop members to develop and rate the importance of barriers, and the impact and feasibility of workgroup-identified improvement strategies. The panelists identified 16 barriers to progress and 44 strategies for consideration. The steps for a national comeback in PTx involve greater emphasis on efficient referral and candidate selection, better donor pancreas utilization practices, eliminating financial barriers to procurement and transplant, improving collaboration between transplant and diabetes societies and professionals, and increasing focus on PTx training, education, and research. Partnership between national societies, patient advocacy groups, and professionals will be essential to realizing this critical agenda.

Japan’s contribution to an ongoing global pediatric cancer clinical trial: The experience of the National Cancer Center Hospital (NCCH) in Tokyo

Compared to Europe and the United States, where the development of pediatric oncology drugs is mandated by law, Japan hosts fewer clinical trials. This can lead to a significant drug lag, especially in the case of treatments for pediatric solid tumors. Notably, regulatory authorities and the government have initiated discussions on strategies to mitigate Japan’s drug lag problem in pediatric oncology. Over the past decade, we have actively sought opportunities to participate in international collaborative clinical trials through Japan’s involvement in ACCELERATE and its predecessor organizations. This approach has aimed to address the issue above, coinciding with the ongoing centralization of medical care and advancements in genomic medicine, among other systems that support pediatric cancer care in Japan. Inspired by the ACCELERATE initiatives and in response to patient advocacy groups’ requests for new pediatric oncology drugs, Japan established its inaugural pediatric oncology support platform in 2021, the National Childhood Cancer Consortium (N3C). N3C comprises patient advocacy groups, industries, and academia. This work outlines the current status of pediatric drug development in Japan and highlights the initial successful experience of NCCH’s participation in a global clinical trial through ACCELERATE resulting in rapid preparation and patient recruitment. Participation of Asian countries including Japan in global collaborative clinical trials may benefit both pharmaceutical companies and the participating countries partnering to advance the development of pediatric oncology drugs.

Over-the-counter hearing aids: implementations and opportunities

After decades of effort by shareholders, including government agencies, patient advocacy groups, and professional organizations, the U.S. Food and Drug Administration (FDA) established a new medical device category for over-the-counter (OTC) hearing aids on October 17, 2022. This FDA regulation allows adults aged 18 years or older with perceived mild-to-moderate hearing loss to purchase OTC hearing aids without a prescription or even a hearing test. The goal is to increase hearing aid accessibility, potentially leading to improved hearing and a better quality of life. In our analysis of the FDA Establishment Registration &amp;amp; Device Listing database, we found that the current OTC hearing aid market is still dominated by traditional hearing aid manufacturers, with limited disruptor from major consumer electronics and startup companies. Our technological analyses showed that the relatively high-level output specification without gain limitation allows sufficient amplification even for people with severe-to-profound hearing loss. Additionally, borrowing from the cochlear implant mapping strategy, we propose novel amplification algorithms for fitting OTC hearing aids without an audiogram. We argue that smartphones and true-wireless-stereo earbuds can functionally serve as OTC hearing aids, further increasing accessibility and affordability while reducing the stigma associated with hearing aids, especially in low- and mid-income countries. By treating more people at a younger age with less hearing loss than traditional prescription hearing aids, OTC hearing aids can potentially have a significant impact beyond hearing care, such as delaying or preventing cognitive decline in the elderly.

Global Risdiplam Compassionate Use Program for Patients with Type 1 or 2 Spinal Muscular Atrophy

PurposeSpinal muscular atrophy (SMA) is a genetic neuromuscular disease causing progressive muscle weakness and reducing life expectancy. Risdiplam (Evrysdi; Genentech/F. Hoffmann-La Roche Ltd, Basel, Switzerland) is a drug approved for use in the treatment of patients with SMA. The ongoing global risdiplam Compassionate Use Program (CUP), initiated in November 2019, is the largest CUP in SMA, currently providing access to risdiplam for >2000 patients with type 1 or 2 SMA in 59 countries. Here, the challenges and learnings from the risdiplam CUP are presented. MethodsEnrolled patients (aged ≥2 months) had type 1 or 2 SMA and no alternative treatment options (ie, they were not medically eligible for approved SMA treatments, were unable to continue their SMA treatment due to medical reasons, were at risk for lack/loss of SMA treatment efficacy, or did not qualify for/had no access to SMA treatment within a clinical trial). Requests were made by the treating physicians via an end-to-end system. FindingsThe risdiplam CUP highlighted the importance of collaborating with patient advocacy groups early to learn about patients' perspectives on unmet medical needs, understanding the sometimes-unique nature of local regulations and requirements, and adapting physician- and patient-eligibility criteria. Key learnings were obtained from enrolling patients from low- to middle-income countries and from countries without dedicated Compassionate Use regulations, and from operating the CUP during the coronavirus disease 2019 pandemic. ImplicationsThe risdiplam CUP experience was successful in many ways and may help to design and implement future CUPs in rare diseases, as well as patients living in countries or in circumstances in which access to innovative treatments is a challenge.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early-onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease-modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development. To address this gap, experts in CDD and representatives from patient advocacy groups from Denmark, Finland, France, Germany, Italy, Poland, Spain, and the United Kingdom convened to form an Expert Working Group. The aim was to provide an expert opinion consensus on how to ensure quality care in routine clinical practice within the European setting, including in settings with limited experience or resources for multidisciplinary care of CDD and other developmental and epileptic encephalopathies. By means of one-to-one interviews around the current treatment landscape in CDD, insights from the Expert Working Group were collated and developed into a Europe-specific patient journey for individuals with CDD, which was later validated by the group. Further discussions followed to gain consensus of opinions on challenges and potential solutions for achieving quality care in this setting. The panel recognized the benefit of early genetic testing, a holistic personalized approach to seizure control (taking into consideration various factors such as concomitant medications and comorbidities), and age- and comorbidity-dependent multidisciplinary care for optimizing patient outcomes and quality of life. However, their insights and experiences also highlighted much disparity in management approaches and resources across different European countries. Development of standardized European recommendations is required to align realistic diagnostic criteria, treatment goals, and management approaches that can be adapted for different settings. PLAIN LANGUAGE SUMMARY: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare condition caused by a genetic mutation with a broad range of symptoms apparent from early childhood, including epileptic seizures that do not respond to medication and severe delays in development. Due to the lack of guidance on managing CDD, international experts and patient advocates discussed best practices in the care of people with CDD in Europe. The panel agreed that early testing, a personalized approach to managing seizures,and access to care from different disciplines are beneficial. Development of guidelines to ensure that care is standardized would also be valuable.

Emergency Care for Pediatric and Adult Patients Affected by Complex Vascular Malformations

Objectives: To characterize the experiences of patients with vascular malformations (VMs) when seeking care for acute or emergent health needs. Methods: Semistructured qualitative interviews and survey study. Setting: National recruitment through patient advocacy groups and multidisciplinary vascular anomaly clinics. Patients/Participants: Adult patients and parents of children with self-reported VM. Results: We interviewed 25 young adult patients and 34 parents. We received survey responses from 138 adult patients and 73 parents who answered all items of interest (analytic cohort = 211). Interview participants described negative experiences with emergency care related to 4 themes: (1) delayed or inadequate care, (2) lack of competent, knowledgeable clinicians, (3) lack of collegial collaboration, and (4) insufficient trust of clinicians in parent’s or patient’s knowledge. Patients and parents reported an average of 1.7 and 2.6 VM-related health problems requiring emergent management in the prior year, respectively. In multivariable logistic regression, having at least one acute or emergent problem in the prior year was associated with household income ≥$100 000 (odds ratio = 0.34, 95% confidence interval, 0.17–0.70), but not gender, race, and ethnicity, age, having a VM specialist, or primary care doctor’s knowledge of VMs. Conclusions: Many patients with VMs require emergent or acute care for complications of their VM. Patients with lower household incomes are more likely to experience these emergent events. Negative experiences often focused on nonsupportive clinician behaviors. Future studies should develop tools to empower patient self-advocacy and provide high-yield information to nonspecialist clinicians.

Accuracy in reporting incontinence in adults with spina bifida: A pilot study

The accuracy of self-reported urinary incontinence (UI) and fecal incontinence (FI) among adults with spina bifida (SB) is unknown. We aimed to quantify the accuracy of self-reported recall incontinence in the last 4 weeks using prospective diary data. Adults with SB were enrolled via patient advocacy groups in a larger 30-day smartphone-based ecological momentary assessment study of daily well-being and incontinence. We examined agreement between yes/no questions on exit questionnaires ("In the last 4 weeks, did you leak any urine and get your underwear, pads, pull-ups or disposable underwear wet?") and 30-day diaries. Collected data included a non-validated 4-item UI Negativity scale (UIN: 0-100, 0=no impact). Inter-rater reliability was assessed with Cohen's kappa (>0.60=substantial). FI was analyzed similarly. Sub-groups were too small for statistical analysis. Median age of 88 adults was 35 years old (70% female, 53% shunted, 71% community ambulators). Among 81 adults reporting UI in the last month, 79 (98%) had diary-documented UI (UI agreement), 2 (2%) did not (Summary Table). Among 7 adults reporting no UI in the last month, 5 (71%) did not record UI in their diaries (agreement in no UI), 2 (29%) did. Both adults reporting no UI on exit questionnaires, despite contrary diary data, experienced single UI episodes (negativity: 0 and 6). In contrast, the UI agreement group recorded UI on median 18 days (median negativity: 22). Sensitivity of the recall UI question was 0.98 (specificity 0.71, kappa 0.69). Among 66 adults reporting FI in the last month, 65 (98%) had diary-documented FI (FI agreement), 1 (2%) did not. Among 22 adults reporting no FI in the last month, 17 (77%) did not record FI in their diaries (agreement in no FI), 5 (23%) did. Five adults reporting no FI on exit questionnaires, despite contrary diary data, experienced a median single episode (median negativity: 8). In contrast, the FI agreement group recorded FI on median 5 days (median negativity: 31). Sensitivity of the recall FI question was 0.93 (specificity 0.94, kappa 0.81). Results were unchanged when analyzing the first and last 28 days of data. Sensitivity/specificity of single incontinence questions approach those reported for women with UI but without SB. Diaries may best serve SB adults with bothersome incontinence. Self-reported incontinence accurately and reliably captures UI and FI among adults with SB. It may minimize less bothersome incontinence, supporting its use in screening for clinical practice and research.

Priority setting: women's health topics in multiple sclerosis.

A scoping review found that most studies on women's health in multiple sclerosis (MS) focused on pregnancy, fetal/neonatal outcomes and sexual dysfunction. Few studies addressed menopause, contraception, gynecologic cancers/cancer screening. However, the perceived relative importance of these knowledge gaps to people living with MS and other partners is unknown. We engaged a range of partners, including people living with MS, health care providers, researchers, and patient advocacy groups, to set priorities for future research in women's health in MS. We employed a three-step global engagement process. First, we identified which broad research topics relevant to women's health in MS were of highest priority using two surveys. Second, we developed specific research questions within these topics using focus groups. Finally, we prioritized the research questions with a third survey. Overall, 5,266 individuals responded to the initial surveys [n = 1,430 global survey, mean (SD) age 50.0 (12.6), all continents; n = 3,836 North American Research Committee on Multiple Sclerosis survey, mean (SD) age 64.8 (9.6), United States]. Menopause, sexual dysfunction, pregnancy, gynecologic cancer/cancer screening, hormones and parenthood were identified as the most important topics. Focus groups generated 80 potential research questions related to these topics. In the final survey 712 individuals prioritized these questions. The highest priority questions in each research topic were: (i) How do perimenopause and menopause affect disease activity, course, response to disease-modifying treatment and quality of life in MS; (ii) What are the most effective strategies for managing issues around sexual intimacy, including related to low sexual desire, changes in physical function, and MS symptoms; (iii) Are there long-term effects of disease-modifying therapies on the children of persons with MS; (iv) What are the short and long-term effects of disease-modifying drugs on gynecologic cancer risk, particularly for high efficacy disease-modifying drugs and hematopoietic stem cell transplantation; (v) Are there hormone related treatments that can stabilize fluctuations in MS symptoms; and (vi) How does MS fatigue impact parenting strategies. Priorities for research relating to women's health issues for persons with MS have been delineated using a collaborative process with key partners. Alignment of future research with these priorities should be monitored.

The Association of High-Quality Hospital Use on Health Care Outcomes for Pediatric Congenital Heart Defects in a Universal Health Care System.

Congenital heart disease (CHD) has an incidence of 0.8% to 1.2% worldwide, making it the most common birth defect. Researchers have compared high-volume to low-volume hospitals and found significant hospital-level variation in major complications, health resource utilization, and mortality after CHD surgery. In addition, researchers found critical CHD patients at low-volume/non-teaching facilities to be associated with higher odds of inpatient mortality when compared to CHD patients at high-volume/teaching hospitals (odds ratio 1.76). We examined the effects of high-quality hospital (HQH) use on health care outcomes and health care costs in pediatric CHD care using an instrumental variable (IV) approach. Using nationwide representative claim data from the United States Military Health System from 2016 to 2020, TRICARE beneficiaries with a diagnosis of CHD were tabulated based on relevant ICD-10 (International Classification of Diseases, 10th revision) codes. We examined the relationships between annual readmissions, annual emergency room (ER) use, and mortality and HQH use. We applied both the naive linear probability model (LPM), controlling for the observed patient and hospital characteristics, and the two-stage least squares (2SLS) model, accounting for the unobserved confounding factors. The differential distance between the patient and the closest HQH at the index date and the patient and nearest non-HQH was used as the IV. This protocol was approved by the Institutional Review Board at the University of Maryland, College Park (Approval Number: 1576246-2). The naive LPM indicated that HQH use was associated with a higher probability of annual readmissions (marginal effect, 18%; 95% CI, 0.12 to 0.23). The naive LPM indicated that HQH use was associated with a higher probability of mortality (marginal effect, 2.2%; 95% CI, 0.01 to 0.03). Using the differential distance of closest HQH and non-HQH, we identified a significant association between HQH use and annual ER use (marginal effect, -14%; 95% CI, -0.24 to -0.03). After controlling for patient-level and facility-level covariates and adjusting for endogeneity, (1) HQH use did not increase the probability of more than one admission post 1-year CHD diagnosis, (2) HQH use lowered the probability of annual ER use post 1-year CHD diagnosis, and (3) HQH use did not increase the probability of mortality post 1-year CHD diagnosis. Patients who may have benefited from utilizing HQH for CHD care did not, alluding to potential barriers to access, such as health insurance restrictions or lack of patient awareness. Although we used hospital quality rating for congenital cardiac surgery as reported by the Society of Thoracic Surgeons, the contributing data span a 4-year period and may not reflect real-time changes in center performance. Since this study focused on inpatient care within the first-year post-initial CHD diagnosis, it may not reflect the full range of health system utilization. It is necessary for clinicians and patient advocacy groups to collaborate with policymakers to promote the development of an overarching HQH designation authority for CHD care. Such establishment will facilitate access to HQH for military beneficiary populations suffering from CHD.

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

BackgroundIn 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts.MethodsAn interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented.Results38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy.ConclusionsThis German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.

Defining the key clinician skills and attributes for competency in managing patients with osteoporosis and fragility fractures.

Osteoporosis and fragility fractures are managed by clinicians across many medical specialties. The key competencies of clinicians delivering bone health care have not been systematically established. We aimed to develop a decision rule to define the threshold of adequate skills and attributes associated with clinical competency in bone health for a clinician serving as a referral source for bone health care. Using a modified-Delphi method, we invited clinicians with expertise in treating osteoporosis and representatives of patient advocacy groups focused on bone health to create a list of desirable characteristics of a clinician with bone health competency. Characteristics were defined as "attributes" with "levels" within each attribute. Participants prioritized levels by perceived importance. To identify the cut points for defining adequate competency, participants next ranked 20 hypothetical clinicians defined by various levels of attributes from highest to lowest likelihood of having adequate bone health competency. Lastly, we conducted a discrete choice experiment (DCE) to generate a weighted score for each attribute/level. The threshold for competency was a priori determined as the total weighted score at which ≥70% of participants agreed a clinician had adequate bone health competency. Thirteen participants generated lists of desirable characteristics, and 30 participants ranked hypothetical scenarios and participated in the DCE. The modified-Delphi exercise generated 108 characteristics, which were reduced to 8 categories with 20 levels with associated points. The maximum possible score was 25 points. A summed threshold score of >12 points classified a clinician as having adequate bone health competency. We developed a numeric additive decision rule to define clinicians across multiple specialties as having adequate competency in managing bone health/osteoporosis. Our data provide a rigorously defined criteria for a clinician with competency in bone health and can be used to quantitate the skills of clinicians participating in bone health research and clinical care.

Latin American Challenges and Recommendations for Poly Adenosine Diphosphate Ribose Polymerase Inhibitor Treatment in Metastatic Castration Resistant Prostate Cancer: An Expert Overview.

In Latin America, prostate cancer is the third most common cancer overall and the most common in men, with the highest mortality rate of all cancers. In 2022, there were approximately 22,985 new prostate cancer cases and 61,056 deaths from prostate cancer in the region. Patients with metastatic disease that is resistant to cure by castration now have multiple therapeutic options, including poly-ADP ribose polymerase inhibitors. These treatment advances present new challenges, such as developing monitoring protocols for early detection of disease progression to castration resistance. The Americas Health Foundation organized a 3-day meeting with 8 regional oncologists and pathologists to create a paper on metastatic castration-resistant prostate cancer diagnosis and therapy, including the new poly-ADP ribose polymerase inhibitors. The panel examined metastatic castration-resistant prostate cancer in Latin America and recommended ways to improve patient care using published literature and their expertise. Gene mutations play an important role in prostate cancer development. Precision medicine innovations highlight the importance of genotyping DNA variants and tumor biomarkers for targeted treatment. Access to appropriate genetic testing is difficult, medications are available but expensive, and there is a lack of infrastructure and regulatory frameworks that prevent patients from benefiting from innovative therapies. The panel recommends developing a population database and biobank and creating tumor tissue collection, processing, and storage facilities. Multi-stakeholder collaboration is needed to integrate the information gathered, train staff, select target populations, improve patient accessibility, and reduce the cost burden of drugs, genetic counselors, and cancer geneticists in Latin America. Collaboration is essential among healthcare professionals, policymakers, patient advocacy groups, pharmaceutical companies, and international organizations to address these challenges and needs in Latin America.