Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?

Access Biomarkers Biosimilars Challenges Citizens Data Diagnostics Empowerment European Commission Incentives Inequality Member states Orphan regulation Patient Patients Personalised healthcare Rare disease Regulatory Reimbursement Treatment Ultra-rare disease Unmet need

Journal

Biomedicine hub
ISSN: 2296-6870
Titre abrégé: Biomed Hub
Pays: Switzerland
ID NLM: 101692630

Informations de publication

Date de publication:
Historique:
received: 04 05 2020
accepted: 09 06 2020
entrez: 10 2 2021
pubmed: 11 2 2021
medline: 11 2 2021
Statut: epublish

Résumé

Since developments are global in the healthcare arena, more should be done to align EU and other big markets' regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders' involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

Identifiants

pubmed: 33564657
doi: 10.1159/000509272
pii: bmh-0005-0001
pmc: PMC7841717
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1-11

Informations de copyright

Copyright © 2020 by S. Karger AG, Basel.

Déclaration de conflit d'intérêts

All authors declare that they have no competing interests. Ivana Cattaneo is a Novartis employee and has stock options in Novartis.

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Auteurs

Denis Horgan (D)

European Alliance for Personalised Medicine, Brussels, Belgium.

Barbara Moss (B)

Europacolon (UK), London, United Kingdom.
Bowel Cancer UK, London, United Kingdom.

Stefania Boccia (S)

Sezione di Igiene, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Maurizio Genuardi (M)

European Society of Human Genetics, Vienna, Austria.
Complex Operational Unit, Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Maciej Gajewski (M)

Alexion, Zurich, Switzerland.

Gabriele Capurso (G)

PancreatoBiliary Endoscopy and EUS Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute IRCCS, Milan, Italy.

Pierre Fenaux (P)

Service d'hématologie seniors, Hôpital St Louis / Université Paris 7, Paris, France.
ERN-EuroBloodNet, the European Reference Network on Rare Hematological Disease, Paris, France.

Beatrice Gulbis (B)

ERN-EuroBloodNet, the European Reference Network on Rare Hematological Disease, Paris, France.
Ht. ERASME-CUB, Brussels, LHUB-ULB, Brussels, Belgium.

Mariangela Pellegrini (M)

ERN-EuroBloodNet, the European Reference Network on Rare Hematological Disease, Paris, France.
Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France.

Maria Del Mar Mañú Pereira (MDM)

ERN-EuroBloodNet, the European Reference Network on Rare Hematological Disease, Paris, France.
University Hospital Vall d'Hebron - Vall d'Hebron Research Institute, Barcelona, Spain.

Victoria Gutiérrez Valle (V)

ERN-EuroBloodNet, the European Reference Network on Rare Hematological Disease, Paris, France.
University Hospital Vall d'Hebron - Vall d'Hebron Research Institute, Barcelona, Spain.

Iñaki Gutiérrez Ibarluzea (I)

EuroScan International Network, Cologne, Germany.
BIOEF, Basque Foundation for Health Innovation and Research, Barakaldo, Basque Country, Spain.

Alastair Kent (A)

Independent Patient Advocate, London, United Kingdom.

Ivana Cattaneo (I)

Novartis Pharma SpA, Origgio, Italy.

Beata Jagielska (B)

Clinic of Oncological Diagnosis and Cardio-oncology, Maria Skłodowska-Curie Institute of Oncology, Warsaw, Poland.

Ivica Belina (I)

Coalition of Healthcare Association, Zagreb, Croatia.

Birute Tumiene (B)

Vilnius University Hospital Santaros Clinics, Vilnius, Lithuania.

Adrian Ward (A)

F. Hoffmann-La Roche Ltd, Basel, Switzerland.

Marisa Papaluca (M)

Imperial College London, London, United Kingdom.

Classifications MeSH