Help us to increase support for rare diseases research and save millions of people #RAREvolution

BLACKSWAN Foundation

#RAREvolution: Stand Up for Scientific Research on Rare Diseases

DEUTSCH; FRANÇAIS; ITALIANO

ENGLISH

A disease is considered rare when it affects few people. Despite the rarity of each rare disease taken individually, together they may affect up to 8% of the population and mainly children. When the immediate family and friends are factored in, rare diseases may impact nearly 25% of the population of any country. Rare diseases affect people all over the world, and are a true global health issue. In developing countries the problems are compounded by poverty, scarcity of medical expertise and other resource limitations.

Rare diseases (RDs) are often associated with severe disabilities and premature death; they are chronic, progressive, degenerative and disabling. The thousands (7,000 to 8,000) of different pathologies defined as “rare” have in common specific features that enhance patient vulnerability: difficulty in obtaining timely and accurate diagnosis; lack of experienced health care providers; scarce research activities compared to more common diseases; and expensive treatments.

The needs of rare disease populations have to be addressed to ensure universal application of the principles of justice and access to health and contribute to reduce health disparities between populations. Health care and treatment for rare diseases is a human rights issue with a global dimension and impact. Specific policies must be put in place to address the needs of people affected by rare diseases and promote universal health coverage across the world as stated by Article 3 of United Nations Sustainable Development Goals: “Ensure healthy lives and promote well-being for all at all ages”. To accomplish this objective, there is also a need for enhanced efforts in the fields of fundamental, translational, epidemiological and clinical research.

Public policy plays a crucial role in advancing rare disease research. The Orphan Drug Act of 1983 in the US and the European Regulation n. 141/2000 demonstrate the impact that policy decisions can have in driving forward innovative research and show the successful outcomes that public policy intervention can achieve. However, much more international attention is needed to push forward research and increase prevention, diagnosis and treatments for rare disease patients. National Plans also provide significant emphasis in individual countries.

The Rare Diseases research community with this petition calls upon public authorities to take the appropriate steps to improve research efforts in the field of Rare Diseases. The need for public support is founded on the accomplishment of the universally recognized right to health, a public good that national authorities must pursue, assuming the role of investors in research when private funders do not.

The following points are provided as guidance for the establishment of policies on rare diseases research:

Increase allocation of resources
Promote a multi-disciplinary and coordinated approach
Adopt specific incentives policies
Leverage existing knowledge and optimize the use of existing drugs
Widen health economics criteria in considering the cost-effectiveness of RDs research
Adopt appropriate and internationally recognized rare disease classification systems
Invest in innovative diagnostic methods of rare diseases to enable early intervention
Set criteria for ante-natal and newborn screening and ethical controls
Recognize the expanding role of patient groups in contributing to develop and foster knowledge and awareness on rare diseases, and include patients at all levels in the development of policies, research agenda and protocols for specific rare diseases