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Page 2 of 7 Gonzaga-Jauregui et al. Rare Dis Orphan Drugs J 2024;3:6 https://dx.doi.org/10.20517/rdodj.2023.48

THE CHALLENGE OF RARE DISEASES IN LATIN AMERICA AND THE CARIBBEAN
The Latin American and Caribbean (LAC) region spans more than 20 million square kilometers and
encompasses 33 countries with a diverse population of approximately 665 million people, accounting for
8.2% of the world population . Countries in the LAC region share similar historical backgrounds, cultures,
[1]
and communicate in highly related languages, namely Spanish and Portuguese, but they also face common
challenges when it comes to rare and undiagnosed diseases.

Rare diseases (RDs) are conditions defined by their low occurrence or prevalence in the general population.
Different countries and regions in the world have defined specific prevalence thresholds to define RDs. For
example, in the United States a rare disease is one that affects less than 200,000 individuals at a time,
[2]
according to the Orphan Drug Act . The European Union has adopted a definition of RD as one that
affects fewer than 1 in 2,000 people . In Latin America, while some countries have adopted the European
[3]
threshold, there is not a region-wide common definition for the prevalence of RDs. There are more than
7,000 documented RDs in the scientific literature, although it is estimated that there are about 10,000 of
[4,5]
them , yet most countries recognize only a small number of conditions. Approximately 40-50 million
people live with a rare disease in Latin America, and 3-4 million of them belong to indigenous and
underserved populations. Consequently, RDs represent a tremendous unmet medical need for healthcare
systems in LAC and around the world.

Rare and undiagnosed diseases in LAC pose a significant challenge to the region's healthcare systems;
prompt diagnosis, access to appropriate care, prevention, and delivery of effective treatments are among the
major challenges. Timely, affordable, and effective access to diagnostics and treatments for patients living
with RDs in Latin America is not only a medical issue but also a reflection of the level of the local social and
healthcare system development. Furthermore, RDs have an impact beyond the affected patients themselves.
They also impact the lives of families and caretakers, affecting their physical and psychological quality of
life, family dynamics, employment, and economics .
[6]
Efforts from multiple research and clinical groups, as well as patient advocacy organizations in individual
countries, are ongoing and are most valuable. However, coordinated regional efforts are needed to address
the shared challenges of rare and undiagnosed diseases in the LAC region. Leveraging a major shared
language, common cultural and socioeconomic histories, an amalgamation of research, clinical, regulatory,
and advocacy efforts across the region are more likely to make an impact for patients throughout LAC and
attract support from international organizations to help promote a better present and future for patients
living with RDs in the region. With this mindset, the Enfermedades Raras en el Caribe y America Latina
(ERCAL) initiative was formed at the beginning of 2020 as a collaborative effort to aggregate and synergize
the work of patient organizations, clinicians, researchers, and patient advocates working to improve the
situation of patients living with rare diseases in LAC.

Origins and motivation of ERCAL
The origins of the ERCAL initiative can be traced back to as early as 2010, when members of the
International Conference for Rare Diseases and Orphan Drugs (ICORD) met in Buenos Aires, Argentina in
2010, to discuss and identify the major international challenges faced by RD patients around the world.
[7]
Discussions during the ICORD meeting in Tokyo, Japan in 2012 resulted in the Yukiwariso Declaration ,
which aimed to provide a rationale and framework for policy, legislation, and action plans for RDs
worldwide. After holding the conference in Mexico City, Mexico in 2015, the ICORD conversations in Cape
[8]
Town, South Africa in 2016 resulted in the Protea Declaration, a call to action for RDs . The Declaration
discussed the need for local legislation and policies to establish national government emphasis on research