Role of pharmacists in the context of rare diseases: a scoping review protocol.

INTRODUCTION: Rare diseases are chronic conditions, generally incurable, progressive and disabling, which may result in early death. Access to therapeutic products, both medicines and appropriate medical devices, is essential to prevent the progression of the disease and maintain the patients' quality of life. Pharmacists can be part of health teams, in charge of guiding patients' journey, monitoring pharmacotherapy and identifying risks. This scoping review aims to identify and summarise evidence on the role of pharmacists and its impact in the field of rare diseases. METHODS AND ANALYSIS: The searches will be conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting guideline for protocols. Three electronic databases will be consulted. Studies reporting on qualitative and/or quantitative data from any world region will be considered. There will be no language or initial time limit for studies inclusion, until December 2022. To be eligible for inclusion, studies must focus on the role pharmacists in clinical services aimed at promote the access to medicines, prevention and resolution of problems related to pharmacotherapy. No assessments of items' quality will be made, as the purpose of this scoping review is to synthesise and describe the coverage of the evidence. Clinical, humanistic or economic outcomes from studies that meet the inclusion criteria will be included in the review. The analysis will synthesise the available evidence and may be able to push pharmaceutical practice forward, aiding professionals, educators and managers in the implementation of new approaches to better meet the needs of rare diseases and providing opportunities for future research. ETHICS AND DISSEMINATION: Primary data will not be collected in this study and formal ethical approval is not required. The findings of this study will be disseminated through peer-reviewed publications and conference presentations.

Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases.

BACKGROUND: Rare diseases affect a small number of people compared to prevalent diseases. The vast majority of these diseases are of genetic origin, have no cure, are chronic and can lead to death. Although the right to access medicines is included in the constitutionally guaranteed right to health in Brazil, problems in the supply of medicines for rare diseases are reported in the country. This study aimed to describe and analyse the initiatives to promote access to medicines for treating rare diseases in the Unified Health System, Brazil, after the publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases. Based on the model published by the WHO Regional Office for Europe, which described access to medicines in prelaunch, perilaunch and postlaunch policies, the initiatives referring to each category were summarized based on documentary research searched in online databases from January 2014 to December 2020. RESULTS: Different actions and policy interventions were identified, which went through the expansion of resources for research and development, health regulations, incorporation of new drugs, review and publication of clinical guidelines, and expansion of the network of care facilities by the Ministry of Health. On the other hand, aspects related to care policies, pricing methods, technological development, and development of pharmaceutical service processes were not implemented. CONCLUSIONS: Although it is impossible to determine the explicit motivation of such actions concerning the Policy, its publication certainly was a landmark in Brazilian society, allowing greater recognition of the needs of rare disease patients and the specificities of treatment'. However, this study suggests that the steps that make up the life cycle of medicines are not linked, lacking articulation and integration of the care network, and consequently, there is no evidence that rare disease policy publication has generated a broad impact on the promotion of access to medicines to treat rare diseases in Brazil.

Transforming uncertainties into legitimate regulation? NICE and CONITEC agencies' decisions on rare diseases. / Transformando incertezas em regulamentação legitimadora? As decisões das agências NICE e CONITEC para doenças raras.

As a scientific and technological practice, the evaluation of health technologies (HTA) is, at the same time, a challenge to determine the value of the technologies to be incorporated. This study aimed to explore and compare the results and technical elements of the evaluations issued for rare diseases between the English (NICE) and the Brazilian agency (CONITEC). The first part of the study involved the systematic search for evaluations from 2013 to 2019. In the second stage, the reports were analyzed based on: (i) descriptive narrative review; and (ii) calculation of the absolute and relative frequency according to each domain and component (element) applied in the European HTA network model. Twenty-four medicines were distinctly assessed during the study period. Through 126 questions (elements) distributed among nine domains, the analysis revealed that 67 (53.2%) and 44 (35.0%) were described in the reports, 42 (33.3%) and 59 (47.0 %) were only considered partially, and 17 (13.5%) and 23 (18.0%) were not considered in the NICE and CONITEC reports, respectively. We identified a relatively low agreement between the Brazilian agency with the English agency in the reports issued for rare diseases. It remains to be seen whether the agencies are able to capture the various values ​​of these medicines, as well as manage uncertainties in the evaluations.

A avaliação de tecnologias em saúde (ATS), enquanto prática científica e tecnológica é, ao mesmo tempo, um desafio, a fim de determinar o valor das tecnologias a serem incorporadas. Este estudo teve como objetivo explorar e comparar os resultados e elementos técnicos das avaliações emitidas para doenças raras, entre a agência inglesa (NICE) e a brasileira (CONITEC). A primeira etapa do estudo envolveu a busca sistemática das avaliações no período de 2013 a 2019. Na segunda etapa, os relatórios foram analisados com base em: (i) revisão narrativa descritiva e (ii) cálculo da frequência absoluta e relativa de acordo com cada domínio e componente (elemento) aplicado do modelo da rede Europeia de ATS. O total de 24 medicamentos foram distintamente avaliados no período do estudo. Por meio de 126 questões (elementos) distribuídas entre nove domínios, a análise revelou que 67 (53,2%) e 44 (35,0%) estavam descritas nos relatórios, 42 (33,3%) e 59 (47,0%) foram consideradas apenas parcialmente e 17 (13,5%) e 23 (18,0%) não foram consideradas nos relatórios do NICE e da CONITEC, respectivamente. Foi constatado uma concordância relativamente baixa da agência brasileira em relação à inglesa nos relatórios emitidos para doenças raras. Permanece indeterminado se as agências são capazes de capturar os diversos valores desses medicamentos, bem como gerenciar as incertezas nas avaliações.

Transformando incertezas em regulamentação legitimadora? As decisões das agências NICE e CONITEC para doenças raras / Transforming uncertainties into legitimate regulation? NICE and CONITEC agencies' decisions on rare diseases

Resumo A avaliação de tecnologias em saúde (ATS), enquanto prática científica e tecnológica é, ao mesmo tempo, um desafio, a fim de determinar o valor das tecnologias a serem incorporadas. Este estudo teve como objetivo explorar e comparar os resultados e elementos técnicos das avaliações emitidas para doenças raras, entre a agência inglesa (NICE) e a brasileira (CONITEC). A primeira etapa do estudo envolveu a busca sistemática das avaliações no período de 2013 a 2019. Na segunda etapa, os relatórios foram analisados com base em: (i) revisão narrativa descritiva e (ii) cálculo da frequência absoluta e relativa de acordo com cada domínio e componente (elemento) aplicado do modelo da rede Europeia de ATS. O total de 24 medicamentos foram distintamente avaliados no período do estudo. Por meio de 126 questões (elementos) distribuídas entre nove domínios, a análise revelou que 67 (53,2%) e 44 (35,0%) estavam descritas nos relatórios, 42 (33,3%) e 59 (47,0%) foram consideradas apenas parcialmente e 17 (13,5%) e 23 (18,0%) não foram consideradas nos relatórios do NICE e da CONITEC, respectivamente. Foi constatado uma concordância relativamente baixa da agência brasileira em relação à inglesa nos relatórios emitidos para doenças raras. Permanece indeterminado se as agências são capazes de capturar os diversos valores desses medicamentos, bem como gerenciar as incertezas nas avaliações.

Abstract As a scientific and technological practice, the evaluation of health technologies (HTA) is, at the same time, a challenge to determine the value of the technologies to be incorporated. This study aimed to explore and compare the results and technical elements of the evaluations issued for rare diseases between the English (NICE) and the Brazilian agency (CONITEC). The first part of the study involved the systematic search for evaluations from 2013 to 2019. In the second stage, the reports were analyzed based on: (i) descriptive narrative review; and (ii) calculation of the absolute and relative frequency according to each domain and component (element) applied in the European HTA network model. Twenty-four medicines were distinctly assessed during the study period. Through 126 questions (elements) distributed among nine domains, the analysis revealed that 67 (53.2%) and 44 (35.0%) were described in the reports, 42 (33.3%) and 59 (47.0 %) were only considered partially, and 17 (13.5%) and 23 (18.0%) were not considered in the NICE and CONITEC reports, respectively. We identified a relatively low agreement between the Brazilian agency with the English agency in the reports issued for rare diseases. It remains to be seen whether the agencies are able to capture the various values ​​of these medicines, as well as manage uncertainties in the evaluations.

Assessing the adherence to and the therapeutic effectiveness of hypolipidemic agents in a population of patients in Brazil: a retrospective cohort study.

OBJECTIVE: to evaluate the relation between patient adherence and therapeutic effectiveness of hypolipidemic agents in clinical practice. METHODS: A retrospective cohort study of 417 patients using hypolipidemic drugs (simvastatin, atorvastatin) between 2003 and 2010 was performed. The population studied consists of patients assisted by the Public Health Service in the far-west region of the State of Santa Catarina, Brazil. The Medication Possession Ratio obtained from pharmacy refill data was used to measure patient adherence. Therapeutic effectiveness was evaluated based on the difference obtained in the serum levels of total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides, before and after taking the drug, in an average time of 8.3 months. RESULTS: Following the treatment with hypolipidemic agents, it has been observed a reduction of 14.3% for total cholesterol, 19.6% for LDL-cholesterol, and 14.4% for triglycerides. HDL-cholesterol increased by an 8.0% average. The major changes in lipid profile were promoted by atorvastatin 20 mg daily. The medication adherence rate decreased over the monitoring period. Adherence rates below 60% were associated with therapeutic failure, while rates equal to 80% or higher were associated with the best response to the lipid-lowering drugs. CONCLUSION: Adherence to hypolipidemic agents is higher at the beginning of the treatment, but it decreases over time, affecting the achievement of therapeutic goals.

Assessing the adherence to and the therapeutic effectiveness of hypolipidemic agents in a population of patients in Brazil: a retrospective cohort study / Evaluando la adherencia y la efectividad terapéutica de los hipolipemiantes en una población de pacientes en Brasil: estudio de cohorte retrospectiva

Objective: to evaluate the relation between patient adherence and therapeutic effectiveness of hypolipidemic agents in clinical practice. Methods: A retrospective cohort study of 417 patients using hypolipidemic drugs (simvastatin, atorvastatin) between 2003 and 2010 was performed. The population studied consists of patients assisted by the Public Health Service in the far-west region of the State of Santa Catarina, Brazil. The Medication Possession Ratio obtained from pharmacy refill data was used to measure patient adherence. Therapeutic effectiveness was evaluated based on the difference obtained in the serum levels of total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides, before and after taking the drug, in an average time of 8.3 months. Results: Following the treatment with hypolipidemic agents, it has been observed a reduction of 14.3% for total cholesterol, 19.6% for LDL-cholesterol, and 14.4% for triglycerides. HDL-cholesterol increased by an 8.0% average. The major changes in lipid profile were promoted by atorvastatin 20 mg daily. The medication adherence rate decreased over the monitoring period. Adherence rates below 60% were associated with therapeutic failure, while rates equal to 80% or higher were associated with the best response to the lipid-lowering drugs. Conclusion: Adherence to hypolipidemic agents is higher at the beginning of the treatment, but it decreases over time, affecting the achievement of therapeutic goals (AU)

Objetivo: Evaluar la relación entre la adherencia del paciente y la efectividad terapéutica de los hipolipemiantes en la práctica clínica. Métodos: Se realizó un estudio retrospectivo de 417 pacientes que usaban hipolipemiantes (simvastatina, atorvastatina) entre 2003 y 2010. La población estudiada estaba compuesta de pacientes atendidos en el Servicio Público de Salud de la región del oeste lejano del estado de Santa Catarina, Brasil. Se usó como medida de adherencia el ratio de posesión de medicación obtenido de los datos de consumo en la farmacia. La efectividad terapéutica se evaluó en base a la diferencia obtenida en los niveles séricos de colesterol total, colesterol-LDL, colesterol-HDL y triglicéridos antes y después de tomar el medicamento en una media de tiempo de 8,3 meses. Resultados: Después del tratamiento con hipolipemiantes, se observó una reducción del 14,3% para el colesterol total, 19,6% para el LDL, y 14,4% para los triglicéridos. El HDL aumentó en una media del 8,0%. Los mayores cambios del perfil lipídico fueron promovidos por la atorvastatina 20 mg diarios. La tasa de adherencia a la medicación disminuyó durante el periodo seguido. Las tasas de adherencia por debajo del 60% estaban asociadas con fracaso terapéutico, mientras que las tasas del 80% o superiores estaban asociadas a la mejor respuesta a los hipolipemiantes. Conclusión: La adherencia a los hipolipemiantes fue mayor al principio del tratamiento, pero disminuye a lo largo de éste, afectando a la consecución de los objetivos terapéuticos. Los procedimientos sistemáticos de monitorización de la tasa de adherencia y la evaluación del perfil lipídico por el farmacéutico (AU)