On Tuesday (11), the Committee for the Defense of the Rights of People with Disabilities held a public hearing where the difficulties faced by people with Pompe syndrome were discussed. The debate was requested and chaired by representative Sargento Portugal (Podemos-RJ).

Nathan Monsores, coordinator in the Ministry of Health, said the organization of services for the population with Pompe disease is not limited to medication alone. In the current global scenario, there are two technologies (proteins) being dispensed, and the therapy chosen by pharmaceutical industries to treat the disease is enzyme replacement therapy.

The coordinator also highlighted that new diagnostic technologies related to the National Neonatal Screening Program will be added, such as mass spectrometry, used in metabolic diseases, molecular technologies and, in the future, genetic tests available throughout the network.

Source: NK Consultores