Rare Diseases in Latin America: A Dialogue with Experts Event

Attendees:

Institutions:

  • Heidi Bjornson representative of the Chan Zuckerberg Initiative (CZI)
  • Stephen Groft, President of Rare Diseases of the Caribbean and Latin America (ERCAL)
  • Richard Salvatierra President of the Americas Health Foundation (AHF)

Moderators:

  • Felicitas Colombo Director of Public and Government Affairs of AHF
  • Dr. Mariana Rico, Medical Director of AHF

Patient Associations:

  • Luciana Escati Peñaloza, Argentinean Federation of Rare Diseases (FADEPOF).
  • Antoine Daherm, Federação Brasileira das Associações de Doenças Raras (FEBRARARAS).
  • Alejandro Andrade, Chilean Federation of Rare Diseases (FECHER).
  • Diego Gil Cardoso, Colombian Federation of Rare Diseases (FECOER).
  • Jesús Navarro, Mexican Organization for Rare Diseases (OMER).

Summary of the Event – Rare Diseases in Latin America: A Dialogue with Experts

There are more than seven thousand rare diseases in the world and most of them have a genetic cause. According to Orpha.net approximately 4% to 8% of the world’s population lives with a diagnosis of a rare disease, translating to 300 million people. This represents a significant group of people requiring specialized care in the provision of health services. In recent decades, there has been increased attention to efforts to stimulate research, development and access to medicines for rare diseases. Although there have been advances in public policy and regulatory frameworks, important reforms are still needed.

Currently, data on Rare Diseases in Latin America are scarce, the population of Latin America and the Caribbean according to the World Bank is 652,276,325 (650 million people). Based on this data, it is estimated that between 26 to 52 million people are living with a rare disease. Although progress has been seen, there are still regulatory, infrastructure, registration and public policy challenges, among others. The objective of the first roundtable was to 1) analyze the current landscape in Latin America, 2) assess the barriers and strengths in the region, and 3) propose recommendations to overcome these challenges.

It is important to identify the definitions of RD. According to the WHO, rare diseases are those that occur in less than 5 people per 10 thousand population. However, this definition varies from country to country. In the Latin American region, there is a wide range of classifications. For example, in Brazil, a disease is considered rare when it affects 65 or fewer inhabitants per 100,000. In Colombia, a disease is considered rare when it affects 1 in 5,000 individuals. Other countries such as Argentina, Chile, Mexico, Panama and Uruguay consider a disease to be rare when it affects 1 in 2,000 individuals.

Round Table 1

Panelists:

  • Dr. Marisa Aizenberg (Argentina) – Academic Director of the Health Observatory at the U.B.A. Law School.
  • Dr. Gustavo Mendes (Brazil) – General Director of Medicines and Biological Products at the National Health Surveillance Agency (ANVISA).
  • Dr. Gabriela Repetto (Chile) – Director of the Rare Diseases Program at the Faculty of Medicine within Universidad del Desarrollo, Santiago de Chile.
  • Dr. Germán Escobar Morales (Colombia) – Vice Minister of Health and Social Protection.
  • Dr. Santiago March (Mexico) – Coordinator of Strategic Projects at FUNSALUD.

Round Table 2

Key points from the UN Resolution on Rare Diseases, published on December 16, 2021, in order to analyze the scope of its adoption in the Latin American region:

  1. The inclusion and participation in society of people living with a Rare Disease and their families.
  2. The guarantee of universal and equitable access to quality health services without financial hardship.
  3. The promotion of national strategies and actions.
  4. The integration of rare diseases into UN agencies, programs and priorities.
  5. Issuing periodic UN reports to monitor progress in the implementation of the resolution.

Panelists:

  • Natalia Messina (Argentina) – Director of Specialty and High-Price Medicines at the National Ministry of Health.
  • Melina Maia (Brazil) – Secretary of the Permanent Mission of Brazil to the United Nations.
  • Manuel Espinoza (Chile) – Head of the Health Technology Assessment Unit of the Clinical Research Center of the Catholic University and Honorary Visiting Fellow of the Center for Health Economics at the University of York.
  • Nubia Bautista (Colombia) – Deputy Director of Non-Communicable Diseases of the Ministry of Health and Social Protection.
  • Tanya Palacios (Mexico) – Director of Genes Latinoamérica AC and belonging to the Judicial Power of the Federation in Mexico.

Recordings of the event:

Cenário Brasileiro de Das Doenças Raras No Brasil

About the congress

Created with the aim of publicizing the theme and provoking enriching discussions, the Rare Disease Scenario has mobilized an increasing number of people. Annually, patients, family members, associations, academics, the pharmaceutical industry and regulatory bodies are invited to the same table.

Plural and democratic, the event symbolically represents Casa Hunter’s belief in dialogue as one of the most effective ways of dealing with the issue of rare diseases, already known for its complexity.

More than 1,900 people registered to participate in the event (online and in person) and about 500 printed stars at the Stage, or Theater of the World Trade Center (WTC), in São Paulo.

The online platform registered 9226 visualizations – 7121 in Portuguese, 1071 in English and 1036 in Spanish, registering the internationalization of the event. In addition, the stage is outlined with simultaneous translation.

Photos:

Event The Awakening of Rare Diseases in Latin America

In order to highlight the importance of early diagnosis and treatment of rare diseases in Latin America and the policy challenges facing policymakers seeking to respond to this need, the Wilson Center and the Americas Health Foundation (AHF) convened an expert panel on August 9th at 10 am EST (9 am CST/11 am BRT) via Zoom.

Regional Meeting

Rare Disease’s Patient Groups in Latin America

Sao Paulo, August 18th, 2022

The event Regional Meeting Rare Disease Patient Groups in Latin America was organized by “Enfermedades Raras en el Caribe y América Latina” (ERCAL) in collaboration with Illumina, CZI and the Americas Health Foundation (AHF). The event took place on August 18, 2022 in Sao Paulo, Brazil. It was supported by several patient association groups from across the region, including Alianza Dominicana de Asociaciones de pacientes (ADAPA), aYOUdas Panama, Enfermedades Raras Costa Rica, Federação Brasileira das Associações de Doenças Raras (FEBRARARAS), Federación Chilena de Enfermedades Raras (FECHER), Federación Colombiana de Enfermedades Raras (FECOER), Federación Peruana de Enfermedades Raras (FEPER) and Organización Mexicana de Enfermedades Raras (OMER) (via Zoom).

Venue: Machado de Assis Auditorium, Gran Estanplaza Berrini 

Participants:  

  • Federação Brasileira das Associações de Doenças Raras (FEBRARARAS) – Ariadne G. Dias, Director. 
  • Federación Chilena de Enfermedades Raras (FECHER) – Alejandro Andrade, President. 
  • Enfermedades Raras Costa Rica – Francini Romero, Association Leader.  
  • Federación Colombiana de Enfermedades Raras (FECOER) – Diego Fernando Gil Cardozo, Executive Director. 
  • aYOUdas Panama – Vanessa Valencia, Social Work for aYOUdas Panama.  
  • Federación Peruana de Enfermedades Raras (FEPER) – María Elena Almendáriz Veiga, Executive Director.  
  • Alianza Dominicana de Asociaciones de pacientes (ADAPA) – Roberto Rodriguez, Vice President.   
  • Organización Mexicana de Enfermedades Raras (OMER) – Jesús Navarro, President (via Zoom).  
Bandera Urguguay

Task force created to work on rare disease patient and family law – In the first days of September, a working group was officially set up in Parliament with the aim of drafting a bill that takes into account the demands of rare disease patients and their families. This is the second part of the Resolution Rare 4 campaign, led by Eurordis (European Organization for Rare Diseases) and the International Committee for Rare Diseases.

Bandera Perú

Regulation of Law No. 29698, Law that declares of National Interest and Preferential Attention the Treatment of persons suffering from Rare or Orphan Diseases.

Bandera Panamá

Panama currently has Law 28 of October 28, 2014, which guarantees social protection to the population suffering from rare, infrequent and orphan diseases. The national interest in rare diseases is recognized by the State, seeking to guarantee access to health services, treatment and rehabilitation for people diagnosed with these diseases, in order for citizens to benefit from the different plans, programs and public health strategies to improve the quality and life expectancy of patients.

Bandera México

Internal REGULATIONS of the Commission for the Analysis, Evaluation, Registration and Follow-up of Rare Diseases – Aims to regulate the organization and operation of the Commission for the Analysis, Evaluation, Registration and Follow-up of Rare Diseases, as well as to establish the procedure and criteria to be followed for the definition, registration and follow-up of those diseases that should be considered as rare and, if necessary, the exclusion of those already defined as such.

Standing Commission Gazette
General Health Law

Bandera Colombia

Law 1392, 2010: by which it is recognized that orphan diseases represent a problem of special interest in health, given their low prevalence in the population, but their high cost of care, they require within the Social Security Health System an insurance mechanism different from that used for general diseases, including high-cost diseases, and highly specialized care processes with a large administrative follow-up component.

National Decree 1954 de 2012: “Whereby provisions are issued to implement the information system for patients with orphan diseases”. 

Agreement 537, 2013: by which the design and implementation of a strategy on the promotion of early detection, follow-up, rehabilitation and surveillance of people affected by orphan diseases in the Capital District.

bandera de chile

Law N° 20.850, june, 2015: This Law provides financial protection for specific health conditions, such as oncological, immunological and rare or infrequent diseases, which have been determined through a Supreme Decree of the Ministry of Health.

bandera brasil

 

In Brazil, neonatal screening for rare diseases has been implemented since 2001 and, since 2009, a national policy for comprehensive care in clinical genetics has been in place.

Policy for the Integral Attention to Subjects with Rare Diseases: establishing guidelines for offering comprehensive care (diagnosis, treatment and/or long term management) to individuals affected by rare diseases in the public unified health system (the same definition of World Health Organization for rare diseases, as those affecting less than 65 out of 100,000 individuals, was used). This policy defines an annual plan of action and financial and logistical support, and envisages the establishment of a national database (important for facilitating the access to high cost drugs, genetic tests, for instance) and the creation of reference treatment centers. These centers should be able to evaluate patients, perform genetic testing procedures, diagnose, treat and offer genetic counseling. The policy defines the two main axes, genetic and non-genetic rare diseases. In addition, it divides the genetic rare diseases in 3 groups: congenital anomalies & late-onset diseases, intellectual disability and metabolic disorders. In this fashion, genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases.

Bandera Argentina

Law 26689. Comprehensive health care for people with rare diseases.– The purpose of this law is to promote comprehensive health care for people with Rare Diseases (RDD) and to improve the quality of life for them and their families.

Decree 794/2015. Regulation of Law 26689.

Resolution 2329/2014. National Program for Rare Diseases and Congenital Anomalies. The National Program of Rare Diseases and Congenital Anomalies is hereby created under the orbit of the national direction of community medicine, under the subsecretary of community medicine, maternity and children, of the Ministry of Health of the Nation.

Resolution 240/2019. Internal operating regulations of the National Commission for Patients with Spinal Muscular Atrophy. Whereby the internal operating regulations of the NATIONAL COMMISSION FOR PATIENTS WITH SPINAL MUSCULAR ATROPHY were approved.

Resolution 1453/2019. National Commission for Patients with Spinal Muscular Atrophy to operate within the orbit of the Rare Diseases Program. The NATIONAL COMMISSION FOR PATIENTS WITH SPINAL MUSCULAR ATROPHY is hereby created, which shall operate within the Rare Diseases Program of the National Directorate of Maternity, children and adolescents under the Secretariat of Health Promotion and Prevention and Risk Control.

Resolution 1115/2020. Guarantee the continuity of coverage for the treatment of patients with Spinal Muscular Atrophy, in types I, II and IIIA. Health Insurance Agents and Prepaid Medicine Entities must guarantee the continuity of coverage for the treatment of patients with Spinal Muscular Atrophy, types I, II and IIIA.