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SYSTEMATIC REVIEW article

Front. Public Health
Sec. Public Health Education and Promotion
Volume 13 - 2025 | doi: 10.3389/fpubh.2025.1520467

Quantifying hope: An EU perspective of rare disease therapeutic space and market dynamics

Provisionally accepted
Emmanuelle Cacoub Emmanuelle Cacoub 1,2*Nathalie Barreto Lefebvre Nathalie Barreto Lefebvre 1*Dimitrije Milunov Dimitrije Milunov 1*Manish Sarkar Manish Sarkar 1*Soham Saha Soham Saha 1*
  • 1 Medinsights SAS, Paris, France
  • 2 ESCP Europe, Paris, France

The final, formatted version of the article will be published soon.

    Rare diseases, affecting millions globally, pose a significant healthcare burden despite impacting a small population. While approximately 70% of all rare diseases are genetic and often begin in childhood, diagnosis remains slow and only 5% have approved treatments. The UN emphasizes improved access to primary care (diagnostic and potentially therapeutic) for these patients and their families. Next-generation sequencing (NGS) offers hope for earlier and more accurate diagnoses, potentially leading to preventative measures and targeted therapies. This studyIn here, we explores the therapeutic landscape for rare diseases, analyzing drugs in development and those already approved by the European Medicines Agency (EMA). We differentiate between orphan drugs with market exclusivity and repurposed existing drugs, both crucial for patients. By analyzing market size, segmentation, and publicly available data, this comprehensive study aims to pave the way for improved understanding of the treatment landscape and a wider knowledge accessibility for rare disease patients.Funding: This work received no external funding. External agencies or companies had no role in the idea and study design, model execution and evaluation, and drafting of figures and manuscript.

    Keywords: Rare Diseases, Orphan drug designations, European Medicines Agency, Market share, Revenue model, pharmaceuticals, Biotech, drug repurposing

    Received: 31 Oct 2024; Accepted: 14 Jan 2025.

    Copyright: © 2025 Cacoub, Lefebvre, Milunov, Sarkar and Saha. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Emmanuelle Cacoub, Medinsights SAS, Paris, France
    Nathalie Barreto Lefebvre, Medinsights SAS, Paris, France
    Dimitrije Milunov, Medinsights SAS, Paris, France
    Manish Sarkar, Medinsights SAS, Paris, France
    Soham Saha, Medinsights SAS, Paris, France

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.