Advancing treatments for rare diseases Together

Addressing rare diseases

Rare diseases

Rare diseases are a major healthcare burden since between 8-10% of the global population is affected; it includes all diseases with a frequency below 750 patients per million population, without any appropriate treatments.

Key facts

Rare diseases are a major healthcare burden:

  • Over +7’000 rare diseases have been identified 
  • They affect 1 out of 10 people in Europe and in the United States
  • Only ~5 % have approved therapeutic solutions
  • 80% are of genetic origin and 50% of rare disease patients are children

 

Rare diseases are eligible for orphan designation

  • Many health authority incentives are available: funds, tax credits, market exclusivity, fast-track authorisation
  • Smaller and shorter clinical trials are required: orphan drugs are approved with an average of 600 patients

 

  • As a nonprofit organisation, our priorities are defined by the medical needs of rare diseases patients and the wealth of good science already available, not by commercial interests or the size of a market. Above all, we strive to apply our patient-centric model and our pharma R&D expertise to advance the discovery of new treatments for these underserved patients.
    Caroline Kant
    EspeRare Founder & Executive Director

Patient groups are key partners

Particularly in rare diseases, they are key partners at each stage of drug development:

  • Given the scarcity and fragmentation of medical expertise, patients are highly knowledgeable and have a strong influence on drug development
  • Through fund raising and lobbying they actively develop expert networks, manage disease related knowledge and support biomedical research

Although companies ultimately bring therapies to market, it is patient groups that are creating the awareness needed to start the drug discovery process 

Patients are at the core of current progress in rare disease R&D