The challenges of pharmacoepidemiology of orphan drugs in rare diseases

Lapeyre‐Mestre, Maryse

doi:10.1016/j.therap.2020.02.013

Cited by 6 publications

(5 citation statements)

References 39 publications

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“…Quality RD registries ipso facto provide a beneficial and applicable platform in all stages of evidence-informed healthcare policymaking, including economic evaluations, and may contribute to a significant advancement in the management of RDs in general [ 28 ]. There is an ongoing discussion about whether the possibility of developing a drug for a particular disease increases if well implemented registries and active patient organizations exist [ 29 , 30 , 31 ].…”

Section: Resultsmentioning

confidence: 99%

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

Stanimirović

Murko

Battelino

et al. 2021

IJERPH

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Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian healthcare system. One of the potential approaches to tackling this problem and treating patients with RDs in a quality and effective manner is to form an RD ecosystem. This represents a functional environment that integrates all stakeholders, procedures, and relationships required for the coordinated and effective treatment of patients. This paper explores the current situation in the field of RDs, especially in light of the proposed ecosystemic arrangement, and provides an outline for the design of an RD ecosystem in Slovenia. The research applies a case-study design, where focus groups are used to collect evidence from the field, assess the state of affairs, and generate ideas. Structured focus group discussions were conducted with preeminent experts affiliated with the leading institutions in the field of RDs in Slovenia. Analyses and interpretations of the obtained data were carried out by means of conventional content analysis. Setting up an RD ecosystem in Slovenia would lead to significant benefits for patients, as it could promote the coordination of healthcare treatment and facilitate extensive monitoring of the treatment parameters and outcomes. A well-organized RD ecosystem could garner considerable systemic benefits for evidence-informed policymaking, a better utilization of resources, and technological innovation. Delivering quality healthcare in this complex field is largely reliant on the effective integration and collaboration of all entities within the RD ecosystem, the alignment of related systemic factors, and the direction of healthcare services to support the needs and well-being of patients with RDs.

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Section: Resultsmentioning

confidence: 99%

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

Stanimirović

Murko

Battelino

et al. 2021

IJERPH

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“…In the pharmaceutical treatment for rare diseases, patients were often forced to accepted off-label medications because no orphan drugs were approved for the corresponding indications, and their safety was difficult to prove [ 40 ]. In recent years, certain patients with rare diseases had survived as new orphan drugs continue to be approved for marketing, but the course of these patients has never been seen, so the detection of new adverse reactions as rare diseases progress may be a result of the disease rather than an adverse reaction to orphan drugs [ 3 ], which makes monitoring for adverse reactions to orphan drugs more difficult. A correlation is discernible between the incidence of serious drug side-effects and the magnitude of a country’s population; countries with expansive populations manifest a heightened likelihood of encountering serious side-effects in contrast to nations with smaller populations, particularly within the context of post-marketing surveillance of adverse reactions to orphan drugs.…”

Section: Main Research Hot Spots In the Field Of Pharmacovigilance Fo...mentioning

confidence: 99%

“…In 2002, The World Health Organization (WHO) expanded the definition of pharmacovigilance in its book The Importance of Pharmacovigilance to include “the science and activities relating to the detection, assessment, understanding, and prevention of adverse reactions or any other possible drug-related problems” [ 2 ]. Although the pharmacovigilance regulatory framework did not distinguish between conventional and orphan drugs, the approved of orphan drugs in recent years, and the post-marketing safety evaluation of orphan drugs present unique challenges to regulators [ 3 ]. Rare diseases (RDs) are a group of diseases with very low incidence and drugs used to treat rare diseases are collectively known as orphan drugs (ODs).…”

Section: Introductionmentioning

confidence: 99%

Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science

Xu,

Li,

et al. 2023

Orphanet J Rare Dis

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Objectives The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the field using the bibliometric tool CiteSpace to provide evidence-based evidence for scholars. Methods We searched the Web of Science Core Collection (WoSCC) for studies related to pharmacovigilance for rare diseases, spanning January 1, 1997-October 25, 2022. CiteSpace software was utilized to discuss countries/regions, institutions, authors, journals, and keywords. Results After screening, a total of 599 valid publications were included in this study, with a significant upward trend in the number of publications. These studies were from 68 countries/regions with the United States and the United Kingdom making the largest contributions to the field. 4,806 research scholars from 493 institutions conducted studies on pharmacovigilance for rare diseases. Harvard University and University of California were the top two productive institutions in the research field. He Dian of the Affiliated Hospital of Guizhou Medical University and Peter G.M. Mol of the University of Groningen, The Netherlands, were the two most prolific researchers. The Cochrane Database of Systematic Reviews and the New England Journal of Medicine were the journals with the highest number of articles and co-citation frequency respectively. Clinical trial, therapy and adverse event were the top three most cited keywords. Conclusions Based on keywords co-occurrence analysis, four research topics were identified: orphan drug clinical trials, postmarketing ADR surveillance for orphan drugs, rare diseases and orphan drug management, and diagnosis and treatment of rare diseases. Immune-related adverse reactions and benefit-risk assessment of enzyme replacement therapy were at the forefront of research in this field. Treatment outcomes, early diagnosis and natural history studies of rare diseases may become hotspots for future research.

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“…При одном и том же орфанном заболевании могут применяться препараты, содержащие разные типы жизнеспособных клеток: дифференцированные, стволовые и фибробласты, индуцированные плюрипотентные, ex vivo генетически модифицированные [41]. К настоящему времени среди огромного числа генетических заболеваний только примерно для 300 нозологических форм существуют методы лечения и соответствующие лекарственные препараты [42,43].…”

Section: обзоры литературыunclassified

Updating preventive measures of children disability

Фисенко

Zelinskaya

Terleckaya

et al. 2021

Ross. vestn. perinatol. pediatr.

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The article provides an overview of special literature, which gives an opportunity to redefine some issues of disability prevention in children with rare (orphan) diseases, which will improve the organizational measures in this area. The prevention of children’s disability is considered as a system of measures to protect the health of the mother and child throughout childhood. The early disability prevention system in children and support for families raising children with disabilities remain among the main priorities of the State social policy of the Russian Federation. The authors describe modern technologies for reducing the genetic burden in the population from the point of view of preventing hereditary and congenital pathologies. They identify the priority areas of disability prevention in children with rare (orphan) diseases, i.e. introduction of prenatal and preimplantation diagnostics; use of the Prenatal Consultation organizational model; conducting a wider screening for congenital and hereditary metabolic diseases with the inclusion of the most common nosological forms of rare (orphan) diseases; finding pathogenetic therapy methods; increasing the knowledge of pediatricians about rare (orphan) diseases.

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The challenges of pharmacoepidemiology of orphan drugs in rare diseases

Cited by 6 publications

References 39 publications

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science

Updating preventive measures of children disability

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