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
- The Innovation Management Toolbox is a reference library of resources in rare disease translational medicine.
- Video by EATRIS: How to apply and benefit from an Orphan Drug Designation.
- EATRIS: Expert mentoring service for rare disease researchers (international experts working under full confidentiality)
- In Dutch: weesgeneesmiddelen.nl
- In Dutch: overview for alternative reimbursement options for orphan drugs
- The ‘Dashboard Doorlooptijden Geneesmiddelen’ (NL) provides insight into which stage of the reimbursement procedure (submission, review or negotiation) expensive, new drugs that have been admitted to the Dutch market are at.
- Discover future innovative medicines and expected indication extensions with the Horizonscan Geneesmiddelen
- Orphan designation: Overview (EMA)
- In Dutch: Expertisecentrum Zeldzame Aandoeningen (ECZA)
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