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Innovative Methodologies for Rare Diseases Clinical Trials

Guest Editors:
Francesc PalauHospital Sant Joan de Déu Barcelona and CIBERER, Spain
Rima Nabbout: Hôpital Necker Enfants Maladesdisabled, France
Ralf-Dieter Hilgers: RWTH Aachen University, Germany

New Content ItemOrphanet Journal of Rare Diseases presents a new Collection on Innovative Methodologies for Rare Diseases Clinical Trials.

Image Credit: H_Ko /

About the collection

Within the EJP RD (European Joint Programme on Rare Diseases), Work Package (WP) 20, "Accelerating the validation, use and development of innovative methodologies tailored for clinical trials in RDs", recognizes and addresses methodological challenges in clinical trials for rare diseases. These challenges include gaps in knowledge of best practices and innovative methodologies. Several actions have been implemented to overcome these gaps.

On one hand, WP 20 seeks to validate and apply innovative statistical methodologies previously developed from three FP7-funded projects (ASTERIX, InSPiRe, and IDeAl) via three demonstration projects. Additionally, two innovative projects address additional needs for trials in limited populations. On the other hand, WP 20 strives to disseminate these state-of-the-art innovative methodologies in these five projects through different scientific webinars.

WP 20 is pleased to publish a series of papers focusing on these developments in clinical trials for rare diseases in the Orphanet Journal of Rare Diseases, which will also be linked to their respective webinars.

WP 20's ambition is to reach the widest possible audience in the field of clinical trials for rare diseases and to expand knowledge and research on these topics through these publications.

  1. Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system...

    Authors: Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee and Vanja Sikirica
    Citation: Orphanet Journal of Rare Diseases 2024 19:117
  2. Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app...

    Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry and Siddharth K Prakash
    Citation: Orphanet Journal of Rare Diseases 2024 19:112
  3. The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical...

    Authors: Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2024 19:96
  4. Recommendations for statistical methods in rare disease trials are scarce, especially for cross-over designs. As a result various state-of-the-art methodologies were compared as neutrally as possible using an ...

    Authors: Martin Geroldinger, Johan Verbeeck, Andrew C. Hooker, Konstantin E. Thiel, Geert Molenberghs, Joakim Nyberg, Johann Bauer, Martin Laimer, Verena Wally, Arne C. Bathke and Georg Zimmermann
    Citation: Orphanet Journal of Rare Diseases 2023 18:391
  5. When assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to select a single meaningful endpoint. However, a single endpoint is often ...

    Authors: Johan Verbeeck, Maya Dirani, Johann W. Bauer, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2023 18:262

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 submission system. During the submission process you will be asked whether you are submitting to a Collection, please select Innovative Methodologies for Rare Diseases Clinical Trials.

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