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New Therapeutic Approaches for Rare Diseases

Guest Editors:
Stefan Kölker:
University Hospital Heidelberg, Germany
Robin Lachmann: University College London Hospitals NHS Foundation Trust, UK

Submission Status: Closed   |   Submission Deadline: 29 February 2024

This collection is no longer accepting submissions.

Orphanet Journal of Rare Diseases presents a new Collection on "New Therapeutic Approaches for Rare Diseases".

Image credit: metamorworks / Getty Images / iStock

  1. Adeno-associated virus (AAV)-based gene therapy for haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impac...

    Authors: Wolfgang Miesbach, Greta Mulders, Daan Breederveld, Karen Pinachyan, Sandra Le Quellec and Ingrid Pabinger
    Citation: Orphanet Journal of Rare Diseases 2024 19:193
  2. Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid...

    Authors: Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu and Jia-yi Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:174

About the collection

In the European Union (EU), about 30 million people are estimated to be affected by one of 6,000 - 8,000 rare diseases, which have long been considered the “therapeutic orphans” of Medicine. As a consequence, affected individuals and their families are particularly disadvantaged in many respects: tedious journeys until a precise diagnosis can be established, lack of therapeutic strategies, scarce expertise, and fragmented health infrastructures that put an immense burden on affected individuals and their families, and the society as a whole. To improve the situation of individuals with rare diseases, the EU has recognized rare diseases as a field of major unmet medical needs for more than two decades, has invested about 2.4 billion euros from 2007 - 2020 for collaborative research under the 7th Framework Program (FP7) and Horizon 2020, and has launched Horizon Europe as research and innovation program for 2021 - 2027. 

Although global rare disease goals have not yet been met, the situation is potentially about to change thanks to continuous collaborative efforts, investments, and innovations. Orphan drug legislation has been successful in stimulating therapeutic innovation, and patients and pharmaceutical companies have both benefited from the development of new drugs, although these advances are still confined to a small number of diseases. In parallel, improved diagnostic strategies, such as newborn screening and modern high throughput genetic testing, have highlighted the enormous impact which the early initiation of disease-modifying therapies can have on the prognosis of these conditions. The advent of genetic therapies is now set to make rare diseases a major area of innovation in Medicine, with single gene defects being the ideal targets for the development of advanced medicinal therapy products, such as gene therapy and other innovative genetic therapies (e.g. mRNA therapy and antisense oligonucleotide therapy). However, with new opportunities come new challenges, such as safety, long-term efficacy, sustainability, pricing, and the provision of access to these new innovative medications. 

This Collection sets out to explore how these technologies are being applied and how this might change our practice in the future. To achieve this overarching goal we invite those with a particular individual, scientific and clinical interest in this highly dynamic field of Medicine to submit original articles and reviews focusing on one or more of the following specific goals:

• To understand the principles of the techniques used for replacing, modulating and altering genetic information in order to cure disease or attenuate the clinical phenotype
• To learn about current strategies used to deliver nucleic acids to different organs and compartments within the body.
• To explore the clinical development of genetic therapies, particularly the identification of meaningful endpoints, and the determination of dosing regimens.
• To define the challenges in providing access to high-priced medications for rare diseases and to look at alternative pricing models
• To learn about the patient's perspectives, expectations, and concerns about genetic therapies.

Submission Guidelines

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Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via the Editorial Manager. During the submission process you will be asked whether you are submitting to a Collection, please select "New Therapeutic Approaches for Rare Diseases".

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Guest Editors have no competing interests with the submissions which they handle through the peer-review process. The peer-review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.