Clipping of news on Brazilian Culture, Law and Citizenship
12/03/2013
This article was translated by an automatic translation system, and was therefore not reviewed by people.
Study reveals that 95% of patients have no treatment and require specialized rehabilitation services. The other 3% have already established treatments for other diseases, which help alleviate symptoms
SAO PAULO - Brazil has about 13 million patients with some of the 7,000 cataloged as rare diseases, 80% had a genetic origin. In the world are 420 million to 560 million carriers of this disease (6% to 8% of the population). Are chronic, progressive, disabling and often fatal. Listed are the neurofibromatosis (affects the nervous system and skin), mucopolysaccharidosis (lack of enzymes that digest some sugars), Gaucher disease (accumulation of fat in the body), amyotrophic lateral sclerosis (motor neuron degeneration) and Fabry disease (disorder absence of enzymes).
Because they are rare, getting treatment is not easy. The numbers included in a survey, released on Monday by the Association of Pharmaceutical Industry Research (Interfarma). The survey also shows that only 2% can benefit from specific drugs that interfere with disease progression. Why are intended for few people, these drugs have a higher cost than other drugs, for example, U.S. $ 50 000 a dose.
The study also reveals that 95% of patients have no treatment and require specialized rehabilitation services. The other 3% have already established treatments for other diseases, which help alleviate symptoms. The data were presented during the seminar "Rare Diseases - the Brazilian Situation in Global Context and Need for National Policy", held in São Paulo, in partnership with The GLOBE.
Most of these diseases - 75% - is manifested early in life and affects mainly children under 5 years of age. And many die before reaching 18 years of age.
The discussion of public policy for rare diseases was the main theme of the seminar. For patients having access to treatment with specific drugs depends if there is a clinical protocol. However, Brazilian law stipulates that medicines for diseases of low prevalence are analyzed for the purpose of incorporation in SUS, for the same parameters used for the high prevalence. To get drugs, some go to court to obtain remedies by SUS. In 2011, the Health Ministry has disbursed U.S. $ 167 million to meet the 433 lawsuits that led to the purchase of medicines.
- We still have a challenge in the treatment of diseases of greater complexity - says chief executive Interfarma, Antônio Britto.
It is estimated that patients take an average of two to four years for the diagnosis of a rare disease. Regina Prospero, president of the São Paulo Association of Relatives and Friends of Patients with Mucopolysaccharidosis, got the diagnosis after losing another child with the disease. Still, the boy took to start treatment after many years, since there was no treatment available in the country.
- You need to change that. The patient suffers greatly. In 54% of cases are geneticists who confirmed the diagnosis. In mucopolysaccharidosis, before confirming the disease, 21% had a wrong diagnosis - says Regina.
The geneticist Roberto Giugliani of medical genetics service at the Hospital das Clinicas de Porto Alegre, remember that these "patients can not wait."
- Most are genetic in origin and need customized treatments. The technological difficulties need to be overcome so that we can act in the patient's gene or try to fix that faulty gene. There are several strategies but involving high technology - Giugliani explains. He defended, as an alternative treatment to get free and without recourse to justice, that patients with rare diseases to participate in clinical research projects. The pharmaceutical Shire, for example, leads 21 research projects at different stages of development (12 in the area of the art, seven in gene therapy and regenerative medicine two)
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Source: The Globe
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This article was translated by an automatic translation system, and was therefore not reviewed by people.