RARE DISEASESIN LATIN AMERICA

The Orphan Drug Act of 1983 from the United States defines a rare disease as a condi�on with a low incidence in the popula�on. These diseases affect a limited number of people (1 in 10,000) and are characterized by a wide diversity of disorders and symptoms. Interna�onal defini�ons on rare diseases vary. For instance, in the UK, a disease is considered rare when it affects 5 in 10,000.

According to the WHO there are 8000 rare diseases which affect 6% to 8% of the world’s population. However, 95% of rare diseases do not have any FDA approved drugs for treatment.

FACTS & STADISCTICSRare diseases are responsible for 35% of deaths in the first year of life.

Out of the 8000 known rare diseases only 300 of them affect 80% of pa�ents.

Approximately 50% of rare diseases do not have a specific founda�on dedicated to finding a cure.

An official survey performed in Ecuador in 2012 recognized 106 rare diseases affec�ng the popula�on. These diseases include cys�c fibrosis, hemophilia, hemoly�c anemia, Thalassemia, Gaucher’s disease, Fabry disease, Niemann-Pick’s disease, Hun�ngton’s disease, Meniere’s disease, mucopolysaccharidoses, lupus and lateral sclerosis.

A F O M A T W H I T E P A P P E R

IN ECUADOR

Laron syndrome

Hereditary Spas�c Paraplegia

Ichthyosis

Micro�a

TOP RARE DISEASES

In Ecuador 1 of every 1000 Ecuadorians have a rare or catastrophic disease. The most common rare diseases in Ecuador are Laron syndrome, Hereditary Spas�c Paraplegia, Ichthyosis and Micro�a. Studies conducted by gene�cs specialist, Dr. Milton Jijon, show that Ecuador has 200 out of the 350 known cases of Laron syndrome in the world. At the end of September 2016, the Na�onal Registry reported that 415.500 people were registered as persons with disability in Ecuador. This shows a prevalence of 2.52% of Ecuadorians live with disabili�es.

Among all cases of rare diseases, 80% will affect children. Many La�n American countries have a high incidence of micro�a with a rate of 3.2 cases per 10,000 people. However, according to Dr Jijon, Ecuador has the highest incidence with 16 cases per 10,000 people.

Most of the informa�on and sta�s�cs about rare diseases comes from Europe and the United States. Due to this fact it is easy to surmise that may rare disease are not being accounted for. Orphanet, an associa�on created in 1997, published a list of the incidence and prevalence of rare diseases in 2018 using European and American databases. Their finding showed that there are roughly 30 million people in the United States living with rare diseases. This equates to 1 in 10 Americans. Europe has approximately 30 million people living with rare diseases.

It is es�mated that 350 million people worldwide suffer from rare diseases.

It is es�mated that those suffering from rare diseases in America spend between $100,000 to $200,000 per year on medica�on. A pharmaceu�cal company would only need between 5,000 to 10,000 pa�ents in order to generate $1 billion in revenue. La�n America however, is s�ll figh�ng to get na�onal gene�c centers and federa�ons to assist people with preven�ng and trea�ng rare disease. Not having specific centers for these diseases hinders the correct diagnosis of these pathologies, consequently affec�ng the accuracy of global sta�s�cs and the emergence of new treatments. There have been many interna�onal efforts to yield new therapies for rare diseases. One of these efforts is the Rare Disease Research Consor�um. This consor�um aims to bring together members of the biopharmaceu�cal industry, health professionals, researchers and regulatory agencies around the world to be�er the lives of those affected by rare diseases.

Peru has created a “Na�onal Plan for Rare or Orphan diseases 2016-2021” which is s�ll wai�ng for approval. This council is seeking to establish Peruvian sta�s�cs on rare diseases and build a gene�c council for the preven�on of new cases.

In 2014 the first list of rare diseases was published by the Ministry of Public Health iden�fying 399 rare diseases. These diseases included Von Willebrand disease, Stuart-Prower factor deficiency, adrenogenital syndrome, phenylketonuria, Kocher-Debre Semelaigne syndrome, pendred syndrome, Addison disease and Factor XII deficiency as high priority diseases. Medicines like tranexamic acid, desmopressin nasal, prednisone and hydrocor�sone are covered for high priority pa�ents. It is es�mated that rare diseases affect around 2.5 million people in Peru.

The Colombian Federa�on of Rare Diseases (FECOER) has been figh�ng for epidemiological studies for years. Databases with robust and reliable data on rare diseases are needed and efforts to create these databases were started in 2010. The most recent data from the Colombian government describes 350 rare diseases with 1300 pa�ents diagnosed. However less than 1% of these pa�ents are receiving adequate therapies for their diseases. Treatment and research is s�ll needed in order to be�er diagnose and treat other pa�ents around the country. Some of the most common rare diseases in Colombia are Marfan syndrome, acromegalia, Duchenne muscular dystrophy (DMD), syndactyly and Werner syndrome

The Mexican Federa�on of Rare Diseases (FEMEXER) has recorded that 10 million Mexican ci�zens have been diagnosed with a rare disease. This number represents more than 6% of the popula�on. Mexico has been developing policies and programs with the help of the Federal Commission for ins�tutes of health. In 2012 the General Law of Health was modified to include rare diseases and drug treatments.

Since this �me 500 treatments for rare diseases have been created.

On the other hand, the Orphan Drug Act of 1983 has facilitated the development of drugs for rare diseases in the United States. This act works as an incen�ve providing tax reduc�ons to companies and the exclusive right to develop a treatment for a rare disease for seven years. Similar legisla�on has been adopted in Japan, Australia and the UK. Approximately 50% of rare diseases do not have a disease specific founda�on suppor�ng or researching their rare diseases. Thus, clinical trials are needed to study all these pathologies and give pa�ents a right diagnosis with an adequate treatment, with the integral efforts from pharmaceu�cal companies and La�n American governments clinical trials could be done to boost clinical research and increase the availability of therapies for these pa�ents who unfortunately have been going una�ended for a while.

If all of the peoplewith rare diseaseslived in one country,it would be theworld’s 3rd mostpopulous country

Among all cases of rare diseases, 80% will affect children. Many La�n American countries have a high incidence of micro�a with a rate of 3.2 cases per 10,000 people. However, according to Dr Jijon, Ecuador has the highest incidence with 16 cases per 10,000 people.

Most of the informa�on and sta�s�cs about rare diseases comes from Europe and the United States. Due to this fact it is easy to surmise that may rare disease are not being accounted for. Orphanet, an associa�on created in 1997, published a list of the incidence and prevalence of rare diseases in 2018 using European and American databases. Their finding showed that there are roughly 30 million people in the United States living with rare diseases. This equates to 1 in 10 Americans. Europe has approximately 30 million people living with rare diseases.

It is es�mated that 350 million people worldwide suffer from rare diseases.

It is es�mated that those suffering from rare diseases in America spend between $100,000 to $200,000 per year on medica�on. A pharmaceu�cal company would only need between 5,000 to 10,000 pa�ents in order to generate $1 billion in revenue. La�n America however, is s�ll figh�ng to get na�onal gene�c centers and federa�ons to assist people with preven�ng and trea�ng rare disease. Not having specific centers for these diseases hinders the correct diagnosis of these pathologies, consequently affec�ng the accuracy of global sta�s�cs and the emergence of new treatments. There have been many interna�onal efforts to yield new therapies for rare diseases. One of these efforts is the Rare Disease Research Consor�um. This consor�um aims to bring together members of the biopharmaceu�cal industry, health professionals, researchers and regulatory agencies around the world to be�er the lives of those affected by rare diseases.

Peru has created a “Na�onal Plan for Rare or Orphan diseases 2016-2021” which is s�ll wai�ng for approval. This council is seeking to establish Peruvian sta�s�cs on rare diseases and build a gene�c council for the preven�on of new cases.

In 2014 the first list of rare diseases was published by the Ministry of Public Health iden�fying 399 rare diseases. These diseases included Von Willebrand disease, Stuart-Prower factor deficiency, adrenogenital syndrome, phenylketonuria, Kocher-Debre Semelaigne syndrome, pendred syndrome, Addison disease and Factor XII deficiency as high priority diseases. Medicines like tranexamic acid, desmopressin nasal, prednisone and hydrocor�sone are covered for high priority pa�ents. It is es�mated that rare diseases affect around 2.5 million people in Peru.

The Colombian Federa�on of Rare Diseases (FECOER) has been figh�ng for epidemiological studies for years. Databases with robust and reliable data on rare diseases are needed and efforts to create these databases were started in 2010. The most recent data from the Colombian government describes 350 rare diseases with 1300 pa�ents diagnosed. However less than 1% of these pa�ents are receiving adequate therapies for their diseases. Treatment and research is s�ll needed in order to be�er diagnose and treat other pa�ents around the country. Some of the most common rare diseases in Colombia are Marfan syndrome, acromegalia, Duchenne muscular dystrophy (DMD), syndactyly and Werner syndrome

The Mexican Federa�on of Rare Diseases (FEMEXER) has recorded that 10 million Mexican ci�zens have been diagnosed with a rare disease. This number represents more than 6% of the popula�on. Mexico has been developing policies and programs with the help of the Federal Commission for ins�tutes of health. In 2012 the General Law of Health was modified to include rare diseases and drug treatments.

50%of people affected by a

rare disease are children.

Since this �me 500 treatments for rare diseases have been created.

On the other hand, the Orphan Drug Act of 1983 has facilitated the development of drugs for rare diseases in the United States. This act works as an incen�ve providing tax reduc�ons to companies and the exclusive right to develop a treatment for a rare disease for seven years. Similar legisla�on has been adopted in Japan, Australia and the UK. Approximately 50% of rare diseases do not have a disease specific founda�on suppor�ng or researching their rare diseases. Thus, clinical trials are needed to study all these pathologies and give pa�ents a right diagnosis with an adequate treatment, with the integral efforts from pharmaceu�cal companies and La�n American governments clinical trials could be done to boost clinical research and increase the availability of therapies for these pa�ents who unfortunately have been going una�ended for a while.

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We offer a wide range of solu�ons for Sponsors, Clinical Contract Organiza�ons and Sites.

FOMAT Medical Research has over 10 years of experience par�cipa�ng in clinical research that includes most therapeu�c areas.

Our mission is to diversify clinical trials throughout the Americas innova�ng healthcare for underrepresented popula�ons.

About FOMAT

Among all cases of rare diseases, 80% will affect children. Many La�n American countries have a high incidence of micro�a with a rate of 3.2 cases per 10,000 people. However, according to Dr Jijon, Ecuador has the highest incidence with 16 cases per 10,000 people.

Most of the informa�on and sta�s�cs about rare diseases comes from Europe and the United States. Due to this fact it is easy to surmise that may rare disease are not being accounted for. Orphanet, an associa�on created in 1997, published a list of the incidence and prevalence of rare diseases in 2018 using European and American databases. Their finding showed that there are roughly 30 million people in the United States living with rare diseases. This equates to 1 in 10 Americans. Europe has approximately 30 million people living with rare diseases.

It is es�mated that 350 million people worldwide suffer from rare diseases.

It is es�mated that those suffering from rare diseases in America spend between $100,000 to $200,000 per year on medica�on. A pharmaceu�cal company would only need between 5,000 to 10,000 pa�ents in order to generate $1 billion in revenue. La�n America however, is s�ll figh�ng to get na�onal gene�c centers and federa�ons to assist people with preven�ng and trea�ng rare disease. Not having specific centers for these diseases hinders the correct diagnosis of these pathologies, consequently affec�ng the accuracy of global sta�s�cs and the emergence of new treatments. There have been many interna�onal efforts to yield new therapies for rare diseases. One of these efforts is the Rare Disease Research Consor�um. This consor�um aims to bring together members of the biopharmaceu�cal industry, health professionals, researchers and regulatory agencies around the world to be�er the lives of those affected by rare diseases.

Peru has created a “Na�onal Plan for Rare or Orphan diseases 2016-2021” which is s�ll wai�ng for approval. This council is seeking to establish Peruvian sta�s�cs on rare diseases and build a gene�c council for the preven�on of new cases.

In 2014 the first list of rare diseases was published by the Ministry of Public Health iden�fying 399 rare diseases. These diseases included Von Willebrand disease, Stuart-Prower factor deficiency, adrenogenital syndrome, phenylketonuria, Kocher-Debre Semelaigne syndrome, pendred syndrome, Addison disease and Factor XII deficiency as high priority diseases. Medicines like tranexamic acid, desmopressin nasal, prednisone and hydrocor�sone are covered for high priority pa�ents. It is es�mated that rare diseases affect around 2.5 million people in Peru.

The Colombian Federa�on of Rare Diseases (FECOER) has been figh�ng for epidemiological studies for years. Databases with robust and reliable data on rare diseases are needed and efforts to create these databases were started in 2010. The most recent data from the Colombian government describes 350 rare diseases with 1300 pa�ents diagnosed. However less than 1% of these pa�ents are receiving adequate therapies for their diseases. Treatment and research is s�ll needed in order to be�er diagnose and treat other pa�ents around the country. Some of the most common rare diseases in Colombia are Marfan syndrome, acromegalia, Duchenne muscular dystrophy (DMD), syndactyly and Werner syndrome

The Mexican Federa�on of Rare Diseases (FEMEXER) has recorded that 10 million Mexican ci�zens have been diagnosed with a rare disease. This number represents more than 6% of the popula�on. Mexico has been developing policies and programs with the help of the Federal Commission for ins�tutes of health. In 2012 the General Law of Health was modified to include rare diseases and drug treatments.

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Since this �me 500 treatments for rare diseases have been created.

On the other hand, the Orphan Drug Act of 1983 has facilitated the development of drugs for rare diseases in the United States. This act works as an incen�ve providing tax reduc�ons to companies and the exclusive right to develop a treatment for a rare disease for seven years. Similar legisla�on has been adopted in Japan, Australia and the UK. Approximately 50% of rare diseases do not have a disease specific founda�on suppor�ng or researching their rare diseases. Thus, clinical trials are needed to study all these pathologies and give pa�ents a right diagnosis with an adequate treatment, with the integral efforts from pharmaceu�cal companies and La�n American governments clinical trials could be done to boost clinical research and increase the availability of therapies for these pa�ents who unfortunately have been going una�ended for a while.

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