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Rare diseases (RD) or infrequent are those that have a low prevalence in the population, that is, they affect a limited number of people. Specifically, although the definition differs in different countries, in various parts of the world it is defined as such when it affects less than 5 per 10,000 inhabitants.

The high economic impact that living with a rare disease means for patients and families, together with the need to expand the coverage of this type of pathology, has led to RD taking over the public agenda of several countries, in search of an approach that allows increasing access to timely and effective treatments.

Although RDs affect a limited number of people, there are many people who live with them, reaching more than 300 million in the world and it is estimated that there are more than 7,000 RDs, of which 6,172 have been identified according to data from Orphanet .

Rare diseases are, for the most part, chronic and degenerative. In fact, 65% of these pathologies are serious and disabling and characterized by an early onset in life (2 out of 3 appear before the age of two), chronic pain (1 out of 5 patients), motor, sensory or intellectual in half of the cases, which cause a disability in autonomy (1 out of 3 cases). About 30% of patients affected by rare diseases die before the age of five, since 75% of them affect children, but this does not prevent adults from acquiring them as well.

Regarding its origin, 80% of cases have a genetic/hereditary origin, although other factors may contribute, such as bacterial or viral infections or allergic and environmental infections.

RD present challenges for the patients who suffer from them, for the health professionals who treat them, and for the researchers who study them.

In the case of patients with RD, the challenges are threefold: they may experience the manifestations of the disease, but have difficulty finding specialist doctors who know, diagnose and treat them; they can suffer the consequences of the disease and go completely unnoticed; and they have to face the high costs of treatment, which means an enormous difficulty of access. Between 2014 and 2018, patients who used so-called “orphan” drugs to treat RD accumulated mean annual costs of US$128,063.

For this reason, multiple non-governmental organizations have emerged committed to promoting knowledge of RD, raising awareness of their impact, treatment and cure, through research, education, advocacy and patient service programs. Among the actions that these organizations lead are the dissemination and search for resources to increase research, support programs for patients and their caregivers, construction of information platforms and development strategies for patient organizations, among others.

For their part, the challenges for health professionals lie in the knowledge and experience in managing these diseases, which are usually concentrated in scattered centers in which physicians have a special interest and have developed experience with these diseases. diseases.

Finally, for researchers, there are several challenges to studying ER. For example, gathering patient cohorts for clinical trials is complex, time-consuming, and expensive; Furthermore, funding for RD research is often scarce.

Regarding the strategies to face these challenges, various approaches used can be observed.

About 35 years ago, the Orphan Drug Act, known as the Orphan Drug Act, was passed in the United States to stimulate the production of RD drugs by offering pharmaceutical companies research grants, tax credits, fee waivers, and 7-year market for approved drugs.

In the case of the European Union, activities related to RD are governed by “Orphan Drugs” community legislation, which also aims to stimulate research and promote the development of these drugs by reducing or exempting regulatory fees, access to procedures centralized, while tax credits are managed by the Member States. Market exclusivity is 10 years, for the European case. There are also national plans for RD, approved in Germany, Bulgaria, Spain, France, Greece, Italy, Portugal, United Kingdom, among others, inspired by the European Project for the Development of National Plans for Rare Diseases (EUROPLAN).

In Latin America, several countries have more or less in-depth legislation on RD, but not national plans that articulate the various measures necessary for the challenges mentioned above, except for the case of Brazil, which in 2014 approved the National Policy for Comprehensive Care for People with ER and the Comprehensive Care Guidelines for them in the Unified Health System (SUS).

Another of the great global challenges is the economic evaluation of orphan drugs for RD, since their coverage depends on it. The problem that exists is that the traditional methodologies used (eg cost-effectiveness) have been designed for diseases with higher prevalences, therefore, when applied, they tend to reject these coverages.

For this reason, for some time now, attempts have been made to use other ways of dealing with these decisions, with specific programs for orphan drugs. Such is the case of the National Institute for Health and Care Excellence (NICE) in the United Kingdom; and the collaborative system of the Member States of the European Union, MoCA (Coordinated Mechanism for Access to Orphan Drugs), which proposes a specific evaluation methodology for this type of pathology aimed at gradually achieving coverage for these high-cost drugs.

In short, there are multiple challenges faced globally around RD, derived from their very low prevalence, which affects hundreds of millions of people and their families. Part of the recipe to move towards a better approach to these diseases involves greater convergence of the various public policies at the global level and international collaboration, such as the one that has been attempted between the European Union and the United States of America through the International Consortium Rare Diseases Research. Efforts of this type also exist at the private level, such as the CGN (Collaborative Global Network). This must gradually create a sustainable ecosystem that incorporates the vision of the various stakeholders involved, that is, patients, governments, health professionals and researchers, industry, among others.

Advancing in this type of initiatives such as the ones just mentioned that cover more regions, allow to create a “global scale” and with it, overcome in a collaborative way and under a common gaze one of the great barriers and challenges of the RD, which, seen locally, it seems to affect only a few, but viewed from a global perspective, it affects hundreds of millions of people, representing one of the largest communities of underserved patients today. The foregoing calls for reflection, since every patient counts.

*The author is an expert in public health policies, Director of the Chilean Association of Health Law, and has been an academic at various Chilean universities on issues related to health systems.


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