Useful links about rare diseases

Rare diseases affect up to 36 million people in the EU, but often no treatment options are available. The ideas and early stages of development of therapies for rare diseases often originate from academic institutions. But further development often stagnates. This may be due to the complexity of the disease, small patient populations, high risks for industry with limited options for reimbursement, regulatory challenges and high costs for society.

Useful initiatives

  • RARE-NL is a national collaboration hub for the development of drugs for rare diseases and drug repurposing in the Netherlands. For more information, check out their website.
  • The European Rare Diseases Research Alliance: ERDERA
  • Rare Diseases Europe: Eurordis
  • VSOP patient association for rare and genetic disorders
  • Orphanet: resource gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases.
  • ERICA: European Rare Disease Research Coordination and Support Action

Useful links

Articles

  • Access to medicines for rare diseases: A European regulatory roadmap for academia (link)
  • In Dutch (behind Paywall): Het ‘Orphan Drug Access Protocol’ voor sutimlimab: innovatieve werkwijze om behandeling met nieuwe complementremmer voor koude-agglutinatieziekte mogelijk te maken (link)

The Innovation Management Toolbox (IMT) is a comprehensive reference library developed by the European Joint Programme on Rare Diseases (EJP RD). It offers a curated collection of resources aimed at supporting researchers and stakeholders in the field of rare diseases. The IMT provides guidance on various aspects of translational medicine, including regulatory pathways, funding opportunities, and best practices for advancing research from the laboratory to clinical application. By consolidating essential information and tools, the IMT facilitates more efficient and effective research processes, ultimately contributing to the development of therapies for rare diseases.

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