The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype is, among others, due to the numerous different genes that are involved, and the differences in clinical presentation over the life span. We have studied the needs of patients and their relatives aiming to develop, evaluate and choose focus in research, medical care and policy to better meet their perspectives. METHODS: Using the participatory and interactive Dialogue method, 80 patients and relatives mentioned 53 different problems or needs (topics) that were categorized into eight themes. These themes and the topics within each theme, were subsequently prioritized by putting them in order of importance methodologically. RESULTS: The four highest prioritized themes were: (1) Physical problems (non-musculoskeletal related); (2) Social, emotional and behavioral problems; (3) Cognitive functioning and information processing; and (4) Problems related to the musculoskeletal system. Nineteen out of the 53 topics were physical problems. According to the total group of respondents, the top 3 prioritized topics within theme 1 were coagulation problems, heart problems, and feeding problems. Also data stratified by age groups, phenotype (NS and other NSSDs) and gender showed some remarkable results. For instance, feeding problems were prioritized as the most important topic of the highest prioritized theme, according to patients aged 0-12 years. Also feeding problems show a significant difference in its prioritization according to female patients (2) compared to male patients (7). On the other hand, heart problems were not mentioned in the top three prioritized topics in the youngest age groups, although heart problems are generally considered most important for patients with NSSD. CONCLUSIONS: With our results we underline the importance of methodologically inventorying the needs of NSSD patients, not only at the group level, but to also focus on specific needs according to e.g. age, phenotype and gender. For instance, it is remarkable that both the current Clinical Guidelines and the Noonan Syndrome diagnostic criteria give little to no attention to feeding problems, though our results indicate that, to the youngest patients, these problems have top priority. A similar situation appears to apply to the clinical management of e.g. coagulation, neuropsychological and musculoskeletal problems (like physiotherapy or occupational therapy) and to a need for (educational) tools to support patients at school or at work. Our study may help to shape targeted (clinical) management, research and policy inside and outside medical (research) institutes and shed light on the complex phenotypes of NSSDs, the families' and patients' perspectives on the everyday consequences of the many different problems, as well as their needs.

The Launch of the European Patients' Academy on Therapeutic Innovation in the Netherlands: A Qualitative Multi-Stakeholder Analysis.

Background: Involving patients' representatives in the research and development of medicinal products (medicines R&D) leads to better medical treatment. In 2014, the European Patients' Academy on Therapeutic Innovation (EUPATI) was started with the goal of increasing the capacity and capabilities of patient representatives in this field. To make this academy more accessible and applicable for the Netherlands, a Dutch version was launched in September 2019. To explore the options for a durable infrastructure for organizing the Dutch EUPATI course, a multi-stakeholder qualitative study was done. The views of various stakeholders from pharmaceutical industry, governmental organizations, patient organizations, and the academic world were examined about the benefits and challenges of this course for patient involvement in medicines R&D. Methods: From April to June 2019, 10 semi-structured interviews were completed, each with two representatives of all stakeholders involved. In addition, individual Dutch graduates of the European EUPATI (EUPATI fellows) were consulted via an e-mail questionnaire. Using a directed content analysis based on the Business Canvas Model, the transcribed interviews were coded, analyzed, and final attributes consolidated. Results: The semi-structured interviews and completed questionnaires explored how the stakeholders are aiming to assist patient involvement in medicines R&D through the Dutch EUPATI course. The building blocks of the Business Canvas Model were described with concrete attributes for making the business case. Stakeholders stated that the Dutch EUPATI course was an incentive for patient involvement in medicines development, for patient-oriented research and outcomes, for the availability of patient representatives (expert ones in particular), and for the content and representation quality of patient representatives. The key values for collaborating in the network as mentioned by the stakeholders were neutrality, patients' interests, equality, independence, shared objectives, long-term commitment, transparency, understanding, trust, and respect. Conclusions: Patient involvement in medicines R&D is evolving and the demand for qualified patient representatives is growing. Dutch stakeholders confirmed the added value of the patients' academy and expressed their willingness to contribute. Important values and conditions for long term collaboration were formulated.

Patient involvement in cardiovascular research: a qualitative impact evaluation.

BACKGROUND & OBJECTIVE: Involving patients in scientific research has been shown to improve the relevance of the research, as well as its quality and applicability. Harteraad, the Dutch patient organization for people with cardiovascular diseases, has a Committee of Experienced Experts (patients) advising researchers on the content of grant proposals prior to submission. Until now, the impact of the committee's advice was unknown. This study, initiated by Harteraad, aimed to evaluate the impact of the provided advice on the content of grant proposals and investigate how to strengthen this impact. METHODS: Fourteen grant proposals both prior to and after receiving the committee's advice were compared in order to analyse how the advice had been incorporated into the final proposal. Subsequently, 10 researchers who received the committee's advice were interviewed. Moreover, a focus group discussion was conducted with five committee members. RESULTS: Document analysis showed that almost 40% of the advice was incorporated in the final grant proposals. Researchers made several changes to their proposals, such as increasing the extent of patient involvement throughout the research, use of simpler language, and/or adding information on the consequences of an intervention for patients. Advice requiring fundamental changes in the research design was most often not incorporated. This finding was confirmed by the interviewees, although some stressed to use the committee's advice later on during the execution of the research. According to the interviewees and members of the committee, the impact of the committee's advice could be strengthened in several ways, including 1) improving training/education for researchers and the committee, 2) organizing dialogues between patients and researchers, 3) aligning perspectives between funding bodies and patient organizations on what is expected from researchers, 4) making it obligatory for the researchers to clarify how the patient's advice was incorporated, and 5) fostering researchers' internal motivation for involvement. Committee members have contributed to implementing these recommendations. CONCLUSION: The committee's advice has considerable impact on the content of grant proposals. However, effort is required to increase the value that is currently attributed to patient involvement, and to support researchers in the required organizational and cultural changes to meaningfully involve patients in research.