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Unlocking the full potential of rare disease drug development: exploring the not-for-profit sector's contributions to drug development and access - PubMed

  • ️Mon Jan 01 2024

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Unlocking the full potential of rare disease drug development: exploring the not-for-profit sector's contributions to drug development and access

Stefano Vavassori et al. Front Pharmacol. 2024.

Abstract

This commentary provides a comprehensive overview of the challenges and opportunities in the field of drug development for rare diseases and especially of gene therapy products for ultra-rare diseases. It discusses the limited market size, reimbursement and scientific complexities that deter pharmaceutical investment in this field. Highlighting the pivotal role of charitable organizations like Fondazione Telethon, it showcases their efforts in funding research and ensuring access to innovative therapies. This commentary also addresses the challenges in therapy distribution, particularly regarding sustainability and global access. It outlines Fondazione Telethon's operational model to try to address these challenges. Finally, it appeals to governments and regulatory bodies to implement policies and incentives aimed at further fostering innovation and accessibility in rare disease drug development and access.

Keywords: NGO = nongovernmental organization; authorities; drug access; drug developement; gene therapy (GT); rare disease (RD).

Copyright © 2024 Vavassori, Russell, Scotti and Benvenuti.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1

The lack of interest and investment in the genetic rare diseases field.

FIGURE 2
FIGURE 2

The Fondazione Telethon’s key factors for a workable alternative to the profit-driven model.

FIGURE 3
FIGURE 3

An appeal to governments and regulatory agencies.

FIGURE 4
FIGURE 4

The key priorities to enhance patient outcomes and support.

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Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. We would like to acknowledge the funding support provided by the European Union under the Horizon Europe project “JOIN4ATMP” (GA No. 101137206), which covered the costs of this open access publication.

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