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:
1. Increase allocation of resources: it is critical that the budget for research on Rare Diseases be doubled over the next five years. The efforts of the public sector should be complemented by resources from the private sector (industry, patient organizations, foundations, academic research centers, and other stakeholders). Public-private partnerships should be encouraged as decisive element of success for Rare Disease research.
2. Promote a multi-disciplinary and coordinated approach: in order to achieve this coordinated approach, countries must urgently create structures of excellence through programs supporting networking and cooperation between centers of expertise. Networks of excellence that focus on research infrastructure (e.g. training of new research investigators, patient registries, common research protocols, and single IRB of Record for multi-site research studies ) as well as provision of disease-related information (clinical trials, patient advocacy groups, guidelines, diagnosis, patient experience)
3. Adopt specific incentives policies: governments and health systems should offer incentives to encourage development of rare disease interventions for the prevention, treatment, and diagnosis of rare diseases by industry and public/private partnerships, as has been done in the United States, the European Union and other countries.
4. Leverage existing knowledge and optimize the use of existing drugs: support innovative drug delivery systems and drug repurposing efforts.
5. Widen health economics criteria in considering the cost-effectiveness of RDs research: most of the rare diseases are associated with significant economic burden, both direct and indirect. The cost to society of no or little research emphasis results in all probability in higher than the cost of any research aimed to overcome the knowledge gap on so many rare diseases. Misdiagnosis and delays in diagnosis of rare disease patients translate into an increase of expenses and in the healthcare and social systems. Moreover, research on rare and orphan diseases often lead to some of the most fascinating scientific discoveries and help our understanding of related common diseases to the benefit of a larger population.
6. Adopt appropriate and internationally recognized rare disease classification systems: at the current time, lack of useful and reliable epidemiological data from research studies contributes to a lack of understanding on the economic and social burden of rare diseases to families and to the public.
7. Invest in innovative diagnostic methods of rare diseases to enable early intervention: innovative diagnostic techniques continue to experience rapid declines in costs of obtaining a diagnosis. Failure to utilize new and existing diagnostic resources results in even greater increases in costs to the healthcare system.
8. Set criteria for ante-natal and newborn screening and ethical controls: criteria for ante-natal and newborn screening and ethical controls for other predictive testing need reconsideration in the light of changes in knowledge of disease causes, patient and support group awareness, new possibilities to improve the patients’ quality of life, and prevention possibilities.
9. 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: recognition of the important role of these groups in providing information and support to research is essential to accept the role of the patients, families and patient advocacy groups as fully engaged partners in the research infrastructure.
“This is no time for apathy or complacency. This is a time for vigorous and positive action” Dr. Martin Luther King