Representation of Patients With Rare Diseases in Spanish Media

There are more than 360 associations of patients with rare diseases in Spain that strive for visibility to obtain funding and encourage clinical pathologies. The Spanish Year of Rare Diseases has been a considerable effort to be part of media agenda since 2013 and a “collective voice” throughout the media has been encouraged with the international initiatives devoted to the cause. Over the past years, representation of patients with rare diseases in Spanish media has been very superficial, despite the renewed interest during the Spanish Year of Rare Diseases. Certain cases as “Paco Sanz” or “Los Padres de la Pequeña Nadia” have negatively affected this representation by using the disease to pursue economic benefit. This chapter reports on the representation of rare diseases through Spanish media and the way it evolved in the last 6 years. The findings highlight the effort that has been made by patient advocacy groups with rare diseases and their relatives and caregivers, who have been recognized and proactive to get the treatment and medication needed.

Stakes, positions and logics: An institutional field analysis of cross-border health IT policy

The concepts field and habitus are used widely and variably in institutional theory. The intellectual antecedents are found in the work of the French Sociologist, Pierre Bourdieu. This study presents a field-level analysis of pan-European policy on cross-border health information technology. Using field theory and institutional theory, we situate field as a multi-level concept which extends institutional and organizational levels of analysis. Empirical data is gathered from European policymakers, health professionals and patient advocacy groups on the diffusion of supra-national health information technology across European Member States. Findings reveal four scenarios depicting field tensions, as ideological and practical imperatives of supra-national health information technology policy mis-align with Member State health systems. This study has implications for policy-makers and other stakeholders, who seek to narrow the digital divide across health fields and sub-fields.

NCCN Virtual Patient Advocacy Summit: Cancer Across the Lifespan

Patients with cancer have widely divergent experiences throughout their care from screening through survivorship. Differences in care delivery and outcomes may be due to varying patient preferences, patient needs according to stage of life, access to care, and implicit or explicit bias in care according to patient age. NCCN convened a series of stakeholder meetings with patients, caregivers, and patient advocacy groups to discuss the complex challenges and robust opportunities in this space. These meetings informed the NCCN Virtual Patient Advocacy Summit: Cancer Across the Lifespan held on December 10, 2020, which featured a keynote presentation, multidisciplinary panels, and presentations from patient advocacy organizations. This article encapsulates and expounds upon the findings from the stakeholder meetings and discussions during the summit.

Choose Your Medicine

Choose Your Medicine is the first comprehensive history of the concept of freedom of therapeutic choice in the United States. It draws on legal history and the history of medicine (as well as political, intellectual, cultural, and social history) to examine the ways that persistent but evolving notions of a right to therapeutic choice have affected American law, regulation, and policy from the country’s origins to the present. It describes social movements and legal efforts dedicated to resisting government measures denying individuals an unfettered choice among therapeutic products and methods. The targets of this activism have included, among others, state medical licensing statutes, FDA restrictions on the distribution of unapproved drugs, state and federal prohibitions against medical marijuana, formulary limitations in government insurance programs, abortion restrictions, and prohibitions on physician-assisted suicide. The narrative’s protagonists range from unschooled supporters of botanical medicine in the early nineteenth century to sophisticated cancer patient advocacy groups in the twenty-first. The book considers how all of these examples, taken together, fit within the broader development of the idea of freedom of therapeutic choice in American history and law.

The first European consensus on principles of management for achondroplasia

Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91–100%) and a high level of agreement (range 8.5–9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia.

Cooperative group and pharmaceutical sponsored clinical trials: Perceptions of U.S. community oncologists.

e13571 Background: Many community-based oncologists in the US participate in clinical trials. These trials largely fall into two categories: trials run by cooperative (co-op) groups, funded and supported by the National Cancer Institute and trials developed, and supported by the pharmaceutical (pharma) industry. This study aimed to assess participation in, and perceptions regarding, co-op versus pharma trials among US community oncologists. Methods: We invited healthcare providers (HCP) across the continental US to attend 4 virtual meetings held between September and November 2020. Participants submitted their demographic information and responses to targeted questions regarding their opinions about co-op- and pharma-sponsored trials via a web-based pre-meeting survey. We evaluated participant HCP practice demographics and survey responses using descriptive statistics. Results: Of 259 surveyed participants, HCPs specialized in hematology-oncology (57%) and medical oncology (40%) with mean (median) 19 (18) years’ clinical experience. Most HCPs (178; 69%) reported participating in clinical research, and of these, 137 (77%) participated in co-op-led and 156 (88%) participated in pharma-led clinical research. HCPs preferred participating in both pharma and co-op (49%), pharma only (22%), and co-op only (11%) trials, while 18% preferred not to participate. Co-op trials were considered more prestigious to lead (86%), less likely to imply a conflict of interest (59%), and to address more pertinent questions (58%), while pharma trials had perceived advantages of better compensation (61%) and superior efficiency (48%). Co-op trials were perceived as not being financially sustainable (69%) and slower to accrue patients (85%) than pharma-led trials. Relatedly, in a hypothetical scenario of competing trials with identical design, the majority (60%) of HCPs preferred enrolling a loved one in a co-op trial. HCPs practicing in facilities with academic affiliation (34%) and in non-academic (66%) settings reported similar perceptions about co-op- and pharma-led trials; though, HCPs in academic settings were more likely to participate in clinical research compared to those in non-academic settings (82% vs. 62% [ P=0.001], respectively). Conclusions: In our survey of experienced HCPs, co-op-led clinical trials were perceived generally more favorably than pharma-led trials, even with concerns regarding cost, feasibility, and slower recruitment. However, despite their preference for co-op trials, HCPs were more likely to participate in pharma-led trials. Almost a third of surveyed HCPs are not participating in clinical trials and a fifth do not wish to. These findings can inform stakeholders (co-op trial leadership, pharma drug development teams, and patient advocacy groups) regarding appropriate education, design, and messaging regarding future clinical trials in oncology.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.

Twitter as a Tool to Spread Communication Regarding Genitourinary Cancers During the COVID-19 Pandemic

Objectives: To better characterize the relay of information about prostate, kidney, and bladder cancer on Twitter in relation to the COVID-19 pandemic. Materials and Methods: Tweets containing the joint hashtags “#COVID-19” and either “#bladder cancer”, “#kidney cancer”, or “#prostate cancer” were identified on the Twitter platform from January 1, 2020 to July 30, 2020. The Twitter handle responsible for each tweet was categorized as an Academic, Medical Education, Patient Advocacy Groups/Non-Profits, Pharmaceutical, or Other entity based on content domain. Descriptive statistics were used to summarize data on Twitter handle characteristics stratified by disease category (bladder, kidney, and prostate). Median/interquartile range and percentages were used to summarize continuous and categorical data, respectively. Number of tweets containing the relevant joint hashtags were tracked over time in relation to the cumulative United States case count of COVID-19. Results: The content of 730 total tweets containing the joint hashtags “COVID-19” and either “#bladder cancer” (138 tweets), “#kidney cancer” (137 tweets), or “#prostate cancer” (455 tweets) from January 1, 2020 to July 31, 2020 were analyzed. We identified 326 unique Twitter handles across all disease states (62 bladder, 47 kidney, and 217 prostate-related). Academic Twitter handles accounted for the greatest number of tweets containing the joint hashtags (31% ). Temporal tracking of tweets with regard to monthly U.S. COVID cases revealed that communication surged in March of 2020 and peaked in April for both bladder and kidney cancer, whereas related prostate cancer Twitter communication peaked in May of 2020. Conclusions: As COVID-19 case counts rose in the United States initially, so too did communication surrounding COVID-19 and genitourinary cancers on Twitter. Many of these conversations were driven by academically-associated Twitter accounts.

Recommendations by the European Network of Paediatric Research at the European Medicines Agency (Enpr-EMA) Working Group on preparedness of clinical trials about paediatric medicines process

Conduct of clinical trials in babies, children and young people is often hindered by issues that could have been foreseen before the trial opened; that is, some clinical trials are often underprepared. In order to identify a good approach to trial preparedness, the European Network of Paediatric Research at the European Medicines Agency formed a working group. The Working Group included representation from regulators, industry, academics, paediatric clinical research networks and parents.The Working Group consulted widely about how to prepare for paediatric clinical trials. The Group’s detailed recommendations have been published (https://www.ema.europa.eu/en/documents/other/preparedness-medicines-clinical-trials-paediatrics-recommendations-enpr-ema-working-group-trial_en.pdf).This paper is a summary of the key recommendations including the following: start early, preferably in parallel to designing the medicine’s development plan and individual protocols; identify the rationale and clinical need; listen to the perspectives of children and families, and of patient advocacy groups; identify how many people will be eligible for the trial; identify the resources needed, such as clinical facilities (including play therapy) and out-of-pocket expenditure by participants and their families; use all available data to estimate what is possible; present information about preparedness in a structured way; deploy proportionate resources to support the preparation of trials.A well-prepared, well-designed trial is likely to require fewer changes during its course, be run in a shorter time frame and achieve expected objectives.

A Roadmap to Patient Engagement: FSHD and the ReSolve Clinical Trial

We describe our efforts to overcome barriers to patient engagement in facioscapulohumeral muscular dystrophy (FSHD), and offer a roadmap that can be replicated in other rare neurological disorders. We implemented an engagement plan during Clinical Trial Readiness to Solve Barriers to Drug Development for FSHD (ReSolve), an 18-month, multi-site, observational study of individuals with FSHD. Elements of our engagement plan included conducting focus groups during protocol development, patient involvement on the ReSolve external advisory committee, creation of a patient advisory committee, and collaboration with patient advocacy groups. Patient feedback led to adaptations in the study protocol and to changes in recruitment and retention methods. Patient engagement ensures the patient voice contributes to multiple aspects of trial design and implementation. Our engagement efforts exemplify how collaboration with patients and families can be accomplished in FSHD and the resultant roadmap process may be replicable in other rare neurological diseases.