Dados do Trabalho

Título

CAN SMA 5Q NEWBORN SCREENING BE A SUSTAINABLE REALITY IN PUBLIC HEALTH SYSTEM (SUS) ? THE EXPERIENCE OF MINAS GERAIS, BRAZIL

Introdução

Since there is the availability of disease modifying therapies for SMA5q the newborn screening became a reality in many countries especially those with upper income. Here we are going to present data from the program of newborn screening set up in Minas Gerais, Brazil. The population in Minas Gerais is around 20.000.000 inhabitants, distributed in 853 cities with 20.000 births per month. The newborn screening in Minas Gerais is a robust program for other 16 diseases.

Objetivo

The aim of this study is to present the organization and results of the first six months of the SMA5q newborn screnning program in Minas Gerais.

Método

The SMA 5q neonatal screening was implanted in January/February of 2024, in the public health system of the state of Minas Gerais. The sample is collected in the primary unity care between the day 3-5 after birth. All samples are processed in the central laboratory specialized in newborn screening. The screening test is done using RT-PCR technique, and the confirmatory test is performed using MLPA. The first consultation is done in a reference center for neuromuscular disorders, and at the same day the treatment is started with the oral medication (Risdiplam)

Resultados

So far we screened 104.000 samples and identified 12 patients with SMA5q. Regarding the copy number of SMN2 gene we found: 8 patients with 2, 3 patients with 3 and 1 patient with 4. Seven patients were female and 5 male. The avarage number of days to start treatment was 17,7 days of age. Eleven patients are using Risdiplam and 1 patient ( with 4 SMN2 copies) is being closely observed without using any medication. Currently, the age of the patients range from 25 days to 7 months. All patients continue to be monitored and reevaluated at the reference center every 2 months (Belo Horizonte) and in their city of origen every 15 days to adjust the dose of the medication ( according to weight gain). All treated patients are showing normal motor development, they are fed exclusively orally and no patient has required ventilatory support or hospitalization so far.

Conclusão

This is the first program of newborn screening for SMA5q in a huge state of Brazil financially supported by the federal, state and municipa governmentsl. It is universal and free for all babies born in Minas Gerais. The organization of this program has so far shown to be a successful and sustainable initiative, with excelent clinical results including normal motor development and no respiratory or bulbar impairment in the treated babies.

Referências

Jedrzejowska M. Advances in Newborn Screening and Presymptomatic Diagnosis of SpinalMuscular Atrophy. Degener Neurol Neuromuscul Dis 2020;10:39-47.
Lee BH, et al . Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years. Neurology. 2022 Jul 14;99(14):e1527–37
Kimizu T, Ida S, Oki K, et al. Newborn screening for spinal muscular atrophy in Osaka- challenges in a Japanese pilot study. Brain Dev 2023;45:365-371.

Palavras Chave

SMA; Risdiplam; newborn screening