In Mexico, it is estimated that between eight and 10 million people live with a rare disease (RD), consistent with the global estimate of 6-8% of the population.¹ The World Health Organization (WHO) notes that there are currently more than 7,000 described rare disease diagnoses, which are often difficult to diagnose and treat, particularly because 70% of them manifest in childhood and more than 95% still lack specific therapies.¹ This global reality underscores the urgent need to address local disparities in rare disease care and treatment, as each lost year can lead to poor health outcomes and financial hardship for families.
The good news is that the pharmaceutical pipeline for rare diseases is significant, and Mexico has adopted mechanisms to accelerate the development and approval of treatments for rare diseases, including a regulatory pathway for orphan drug designation.2
Advancements in Rare Disease Diagnosis and Treatment in Mexico
In recent years, Mexico has made significant progress in enhancing access to rare disease diagnosis and treatment through regulatory and clinical advancements that align with international standards. Yet, considerable work is still needed to ensure these advancements reach all patients who need them.
The Mexican Congress recently began an initiative to help collect necessary data to develop evidence-based policies for rare diseases, establishing a National Registry of Rare Diseases. Furthermore, the Rare Disease Diagnostic Unit at the National Autonomous University of Mexico (UNAM) has reduced the diagnostic process for hundreds of families to less than two years using telemedicine, genomic sequencing, and the expanded neonatal screening program, which covers 65 conditions.2
“Although the health system has improved, some patients still wait years for a diagnosis. Early intervention would make all the difference,” says Juana Inés Navarrete Martínez, a geneticist and the coordinator of the Department of Genetics at the Faculty of Medicine of UNAM. On average, the ‘diagnostic odyssey’ lasts four to eight years, requiring patients to visit up to eight specialists.3
When it comes to treatment, Cofepris, the Federal Commission for the Protection against Sanitary Risks—Mexico’s central regulatory authority—has granted orphan status to 96 medicines and minimized authorization time to an average of six months.4 Despite this momentum, many of these orphan-designated medicines do not appear in the basic tables of the Mexican Social Security Institute (IMSS), the Institute of Security and Social Services for State Workers (ISSSTE), or IMSS-Bienestar. They are also largely not covered by private insurance, leaving many families with no choice but to pay out-of-pocket – or, as is often the case, go without treatment all together.
Given the high cost of many rare disease treatments, improving access to treatment for both insured, uninsured or underinsured patients, remains a critical priority.
“Patient Access Programs, such as those designed by Axios International, can help provide sustainable models to help patients access the treatment they need for the long term. These programs have benefited thousands of patients in 40+ countries around the world, including Mexico,” says Silvia Méndez, Axios International’s Regional Operations Lead in Mexico. “It’s important that we explore how to scale these programs to be able to reach more rare disease patients in Mexico.”
Dr. Navarrete Martínez adds: “These programs for patients are very important because they make invisible diseases visible. Organized patients help put these diseases on the radar.”
What The Future Holds
As Mexico continues to strengthen its approach to rare disease care, collaboration across sectors will be key to building a more inclusive and effective healthcare system. Policymakers, healthcare providers, patient advocates, and industry leaders must work together to advance diagnostics, streamline regulatory pathways, and implement sustainable access models.
By prioritizing rare disease patients and investing in long-term solutions, Mexico can lead the way in transforming rare disease care, not just as a national imperative, but as a model for other emerging economies striving to do the same.
Sources
¹ World Health Organization. Rare Diseases: A Global Health Priority. Geneva: WHO; 2025.
2 Grand View Research. Mexico Clinical Trials Market Size & Outlook, 2023–2030. Grand View Research; 2023.
3 El Economista. Challenges of RRS diagnosis. El Economista. February 17, 2024.
4 El Economista. Cofepris recognizes 96 orphan drugs. El Economista. March 2, 2024.
5 Government of Mexico. Press release 004. Mexico City: Coordinación de Salud Global; June 30, 2023.
