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Table 1. ERCAL/CEPCAL working groups and their objectives
CEPCAL working group Objective(s)
Legislation and regulation for rare • Advocate for favorable legislation and regulation regarding rare and low-prevalence diseases,
diseases in LAC diagnosis, and access to drugs and therapies in the LAC region
Collaborative and research networks for • Create and strengthen ties and collaboration between CEPCAL members and members of other
rare diseases in LAC networks and organizations to advance the objectives of CEPCAL
• Establish CEPCAL as the regional and international reference platform to seek reliable information
and amalgamate efforts on rare and low-prevalence diseases in LAC
Access and implementation of • Promote and advocate for access to molecular diagnosis in an efficient, affordable, and accessible
molecular diagnostics technologies way and in a reasonable time frame for any patient suspected of having a rare and low-prevalence
genetic disease
• Advocate for the incorporation of genetics and molecular diagnostics into routine medical practice in
LAC
Access and implementation of • Break the barriers to accessing information and healthcare, such as distance, healthcare services
information and digital technologies availability, language, and socioeconomic capabilities
Access to integral care and • Advocate for access to integral care within the region for patients living with rare and low-prevalence
implementation of centers of excellence diseases in LAC to improve their disease management and overall quality of life
in rare diseases
Access to clinical trials, therapies and • Promote the inclusion of patients from LAC in clinical trials to enable early access to innovative
treatments therapies to treat rare and low-prevalence diseases
• Advocate for timely and affordable access to therapies for rare and low-prevalence diseases in the
region by bringing stakeholders together to find solutions
Education, outreach and training in rare • Produce educational, informational, and training materials for patients, families, healthcare
diseases professionals, and the general public to raise awareness and increase education about rare and low-
prevalence diseases in LAC
• Increase and improve the understanding and awareness of healthcare professionals in LAC regarding
rare and low-prevalence diseases and the technologies and strategies that exist to improve the
diagnosis and care of patients living with them
• Increase the awareness about rare and low-prevalence diseases in the general public
Diversity, equity, and representation of • Promote and advocate for equal access to diagnosis, care, treatment, and information for patients
indigenous and vulnerable populations living with rare and low-prevalence diseases regardless of their socioeconomic or genetic ancestry
in LAC background to achieve equitable healthcare for everyone in LAC
CEPCAL: Colaborativa para Enfermedades Poco Frecuentes en el Caribe y América Latina; LAC: Latin America and the Caribbean.

Access to treatments is another major challenge for RD patients in LAC. The scarcity of available treatments
for RDs, including the newer molecular therapies, which currently only reach 10% of RDs, is not the sole
concern. The high cost of therapies is amplified in LAC countries versus higher-income countries and
regions. Publicly funded health systems in much of LAC cannot subsidize the cost and patients must pay
out of pocket for treatments and other medical costs. Moreover, orphan drug prices are not regulated in the
region and there is great variability among countries in terms of price and access for RD therapeutics. An
objective of ERCAL is to advocate for regional regulation of approval and prices for RD treatments that can
enable governments in the region to better negotiate with pharmaceutical companies to benefit patients
across LAC.

Looking into the future, CEPCAL
In January 2024, ERCAL assumed a new name to more accurately signify its evolution into an inclusive
collaborative platform, with engaged members from across the LAC region, including patients, researchers,
clinicians, patient representatives, and others working across all areas of the rare and low-prevalence
diseases ecosystem. Additionally, in response to patient and patient advocate feedback regarding the use of
the term “rare” and its somewhat negative connotation in Spanish, we have adopted the broader term of
“poco frecuentes” to represent all patients living with low-prevalence diseases in LAC. Henceforth, the
Colaborativa para Enfermedades Poco Frecuentes en el Caribe y América Latina (CEPCAL) will carry on
with the work started as ERCAL in 2020 so that all patients living with any rare and low-prevalence disease
in our region are recognized and have the best possible quality of life.