Disease-modifying therapies in Pediatric Neuromuscular Diseases: Where do we stand - The SMA5q example

Speaker: Juliana Gurgel Giannetti
When: Saturday, March 8, 2025
Time: 09:00 AM Eastern Time ( US/ Canada )

About Topic:
Over the last decade, several therapeutic approaches have been developed for different Neuromuscular disorders, and SMA5q is the main example in this field. In the past, SMA5q was considered one of the most common lethal genetic disorders in childhood.
Currently, there are three medications for SMA5q approved by the Food and Drug Administration (FDA) and in several countries (Nusinsersen, Onasemnogene Abeparvovec and Risdiplam), which can change the natural history of this disorder with the best results being obtained with early treatment. Unfortunately, there is no evidence that patients treated after the onset of symptoms can develop normally, which reinforces the importance of early diagnosis and treatment, ideally in the pre-symptomatic phase.
Recently, many pilot studies of newborn screening (NBS) for SMA5q have been launched worldwide. The expansion of NBS, including SMA5q, in Brazil was recently approved. Here we are going to present data from the first year of the SMA5q newborn screening program in a large state in Brazil (a middle-income country). The state of Minas Gerais has a population of twenty million inhabitants with 20,000 newborns per month, distributed in 804 different cities. This is the first state of Brazil that set up the SMA5q in the public health system, covering all the extensions of this large state. We will review information about this disease, the impact of early diagnosis and the experience of the SMA5q NBS in Minas Gerais, Brazil.

Learning Objectives:
• To review the natural history of SMA5q
• To review the pathophysiology of the disease
• To review the principle of the disease modifier therapies
• To present data from the first program of SMA5q NBS in Brazil: the impacts and challenges