Editorial
24 November 2022
Viviana Giannuzzi
, Violeta Stoyanova-Beninska
and
Virginie Hivert
Editorial: The use of real world data for regulatory purposes in the rare diseases setting
Editors
3
Impact
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Original Research
30 September 2022
Monica Mazzucato
, 4 more and
Paola Facchin
2,404 views
3 citations
Policy and Practice Reviews
23 September 2022
Marina Mordenti
, 4 more and
Luca Sangiorgi
1,939 views
6 citations
Original Research
12 September 2022
Elisa Ferrer-Mallol
, 6 more and
Elin Haf Davies
8,034 views
11 citations
Review
04 August 2022
Contribution of patient registries to regulatory decision making on rare diseases medicinal products in Europe
Carla J. Jonker
, 2 more and
Kelly Plueschke
Between 2000 and 2021, the European Medicines Agency (EMA) assigned the orphan designation to over 1,900 medicines. Due to their small target populations, leading to challenges regarding clinical trial recruitment, study design and little knowledge on the natural history of the disease, the overall clinical evidence submitted at the time of marketing authorisation application for these medicines is often limited. Patient registries have been recognised as important sources of data on healthcare practices, drug utilisation and clinical outcomes. They may help address these challenges by providing information on epidemiology, standards of care and treatment patterns of rare diseases. In this review, we illustrate the utility of patient registries across the different stages of development of medicinal products, including orphans, to provide evidence in the context of clinical studies and to generate post-authorisation long term data on their effectiveness and safety profiles. We present important initiatives leveraging the role of registries for orphan medicinal products’ development and monitoring to ultimately improve patients’ lives.
Systematic Review
11 August 2022
Frauke Naumann-Winter
, 6 more and
Armando Magrelli
3,164 views
9 citations
Review
08 June 2022
Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
Julien Delaye
, 1 more and
Anna Kole
Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases.
Methods: This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations.
Discussion: The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools.
Conclusion: A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices.
Perspective
23 May 2022
Tobias B. Polak
, 3 more and
Jonathan J. Darrow
Patients with rare diseases often have limited or no options for approved treatments or participation in clinical trials. In such cases, expanded access (or “compassionate use”) provides a potential means of accessing unapproved investigational medicines. It is also possible to capture and analyze clinical data from such use, but doing so is controversial. In this perspective, we offer examples of evidence derived from expanded access programs for rare diseases to illustrate its potential value to the decision-making of regulators and payers in the European Union and the United States. We discuss ethical and regulatory aspects to the use of expanded access data, with a focus on rare disease medicines. The heterogeneous approach to expanded access among countries within the European Union leaves uncertainties to what extent data can be collected and analyzed. We recommend the issuance of new guidance on data collection during expanded access, harmonization of European pathways, and an update of existing European compassionate use guidance. We hereby aim to clarify the supportive role of expanded access in evidence generation. Harmonization across Europe of expanded access regulations could reduce manufacturer burdens, improve patient access, and yield better data. These changes would better balance the need to generate quality evidence with the desire for pre-approval access to investigational medicine.
Open for submission
Frontiers in Pharmacology
Environmental Impact of MedicinesEdited by Jerin Jose Cherian, Thamir M Alshammari
Deadline
06 February 2025