Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

Richter, Trevor; Nestler-Parr, Sandra; Babela, R.; Khan, Zeba M.; Tesoro, Theresa; Molsen, Elizabeth; Hughes, Dyfrig

doi:10.1016/j.jval.2015.05.008

Cited by 397 publications

(309 citation statements)

References 10 publications

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“…Existem diversas definições para o termo "doenças raras", porém ainda não há uma conceituação universal sobre ele, mesmo com o aumento dos estudos nessa área (RICHTER et al, 2015). Portanto, a maioria das legislações dos países utiliza o critério de prevalência 6 , cujo 5 Big Pharma é o termo que diversos autores dão para as grandes empresas farmacêuticas, especialmente quando querem discutir seus abusos, por exercerem uma influência negativa (CAMBRIDGE DICTIONARY, s/d; MERRIAM-WEBSTER DICTIONARY, s/d), uma vez que buscam enormes lucros sobre a saúde e bemestar da população, além de corromperem a maneira pela qual a indústria da saúde oferta seus serviços que são vitais para os seres humanos (HAGOPIAN, 2015).…”

Section: Doenças Raras Medicamentos óRfãos E Indústria Farmacêuticaunclassified

Doenças Raras, Medicamentos Órfãos: reflexões sobre o Dark Side das organizações da indústria farmacêutica

Pirett

Medeiros

2018

Rev. Bras. de Est. Organ.

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ResumoNeste artigo teórico, nosso objetivo é ponderar sobre a atuação da indústria farmacêutica e do Estado brasileiro, quanto ao desenvolvimento e à oferta de medicamentos para o tratamento das doenças raras, na perspectiva do dark side das organizações. Ao fazermos isso, chamamos atenção para outras práticas corporativas que ocorrem nesse setor e que trazem implicações para a sociedade em geral. Nossa contribuição reside em estimular pesquisas sobre a indústria farmacêutica que se orientem para a compreensão de questões raramente consideradas em pesquisas no campo dos estudos organizacionais, como, por exemplo, o poder e influência desse setor em governos, mercados e instituições. Palavras-chave: Dark side. Indústria farmacêutica. Doenças Raras. RARE DISEASES, ORPHAN DRUGS: REFLECTIONS ON THE DARK SIDE OF ORGANIZATIONS OF THE PHARMACEUTICAL INDUSTRY AbstractIn this theoretical paper, our aim is to consider the performance of the pharmaceutical industry and the Brazilian State, regarding the development and supply of drugs for the treatment of rare diseases, from the perspective of the dark side of organizations. In doing so, we call attention to other corporate practices that occur in this sector and that have implications for society in general. Our contribution is to stimulate research on the pharmaceutical industry that is oriented towards the understanding of issues rarely considered in research in the field of organizational studies, such as the power and influence of this sector in governments, markets and institutions.

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Section: Doenças Raras Medicamentos óRfãos E Indústria Farmacêuticaunclassified

Doenças Raras, Medicamentos Órfãos: reflexões sobre o Dark Side das organizações da indústria farmacêutica

Pirett

Medeiros

2018

Rev. Bras. de Est. Organ.

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“…20 With a general prevalence of 1:2,000-1:5,000 ARVC/D is a rare disease, which is defined as a prevalence of ≤1:2,000 according to the European definition. 21 However, in some endemic areas the prevalence may be higher. 22 ACM is a leading cause of sudden cardiac death (SCD) due to ventricular tachyarrhythmias, particularly in young athletes ≤35 years of age.…”

Section: Epidemiologymentioning

confidence: 99%

Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes

Akdiş

Brunckhorst

Duru

et al. 2016

Arrhythmia &Amp; Electrophysiology Review

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This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes. At later stages, heart failure may occur. Diagnosis is established with the 2010 Task Force Criteria (TFC). Modern imaging tools are crucial for ACM diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting functional and structural alternations. Of note, structural findings often become visible after electrical alterations, such as premature ventricular beats, ventricular fibrillation (VF) and ventricular tachycardia (VT). 12-lead ECG is important to assess for depolarisation and repolarisation abnormalities, including T-wave inversions as the most common ECG abnormality. Family history and the detection of causative mutations, mostly affecting the desmosome, have been incorporated in the TFC, and stress the importance of cascade family screening. Differential diagnoses include idiopathic right ventricular outflow tract (RVOT) VT, sarcoidosis, congenital heart disease, myocarditis, dilated cardiomyopathy, athlete’s heart, Brugada syndrome and RV infarction. Therapeutic strategies include restriction from endurance and competitive sports, β-blockers, antiarrhythmic drugs, heart failure medication, implantable cardioverter-defibrillators and endocardial/epicardial catheter ablation.

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“…These properties are crucial when studying rare diseases, as the population size is limited and may be geographically widespread. According to the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) group, the average prevalence threshold for a rare disease ranges from 5 to 76 cases/100,000 people, with a global average of 40 cases/100,000 people [32]. With such a small prevalence, the inclusion of thousands (or even only hundreds) of patients in a study becomes virtually impossible, thus making essential the identification of sensitive imaging biomarkers that allow the designing of studies with sufficient statistical power despite the availability of only a few dozens of patients.…”

Section: Atherosclerosis Imaging For Plaque Regression: a Historical mentioning

confidence: 99%

“…Late gadolinium enhancement also allows assessment of the thickness of the fibrous cap in a carotid atherosclerotic plaque [31] as well as identification of carotid plaque rupture or ulceration that may or may not be clinically apparent [32,33]. Alternative MRI techniques have also been explored as efficacy end-points in clinical trials.…”

Section: Neovascularization Plaque Hemorrhage and Luminal Thrombusmentioning

confidence: 99%

Non-invasive imaging of atherosclerosis regression with magnetic resonance to guide drug development

et al. 2016

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Slowing of progression and inducing the regression of atherosclerosis with medical therapy have been shown to be associated with an extensive reduction in risk of cardiovascular events. This proof of concept was obtained with invasive angiographic studies but these are, for obvious reasons, impractical for sequential investigations. Non-invasive imaging has henceforth replaced the more cumbersome invasive studies and has proven extremely valuable in numerous occasions. Because of excellent reproducibility and no radiation exposure, magnetic resonance imaging (MRI) has become the non-invasive method of choice to assess the efficacy of anti-atherosclerotic drugs. The high accuracy of this technology is particularly helpful in rare diseases where the small number of affected patients makes the conduct of outcome-trials in large cohorts impractical. With MRI it is possible to assess the extent, as well as the composition, of atherosclerotic plaques and this further enhances the utility of this technology.

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Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

Cited by 397 publications

References 10 publications

Doenças Raras, Medicamentos Órfãos: reflexões sobre o Dark Side das organizações da indústria farmacêutica

Doenças Raras, Medicamentos Órfãos: reflexões sobre o Dark Side das organizações da indústria farmacêutica

Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes

Non-invasive imaging of atherosclerosis regression with magnetic resonance to guide drug development

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