Risdiplam. SMN2 splicing modulator, Treatment of spinal muscular atrophy

Chiriboga, CA

doi:10.1358/dof.2019.44.8.2996486

Cited by 2 publications

(2 citation statements)

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“…With the development of disease-modifying therapies, the clinical journey of patients has been transformed, and NBS allows patients to be diagnosed prior the appearance of symptoms in many cases. Three drugs are currently approved for clinical use in SMA, nusinersen (Spinraza ® ) [20][21][22][23][24][25][26][27][28][29][30][31][32], onasemnogene abeparvovec-xioi (Zolgesma ® ) [33,34], and risdiplam (Evrysdi ® ) [35][36][37][38] (Table 1). All have been assessed in asymptomatic patients [39][40][41][42][43][44][45].…”

Section: Spinal Muscular Atrophymentioning

confidence: 99%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

Journal of Neuromuscular Diseases

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There has been tremendous progress in treatment of neuromuscular diseases over the last 20 years, which has transformed the natural history of these severely debilitating conditions. Although the factors that determine the response to therapy are many and in some instance remain to be fully elucidated, early treatment clearly has a major impact on patient outcomes across a number of inherited neuromuscular conditions. To improve patient care and outcomes, clinicians should be aware of neuromuscular conditions that require prompt treatment initiation. This review describes data that underscore the importance of early treatment of children with inherited neuromuscular conditions with an emphasis on data resulting from newborn screening efforts.

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Section: Spinal Muscular Atrophymentioning

confidence: 99%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

Journal of Neuromuscular Diseases

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“…(8) This compound blocks the interaction with the MDR1 transport protein (human multidrug resistance protein) and prevents splicing of exon 7 of the SMN2 gene, increasing the amount of complete SMN protein. (9) There are, therefore, 3 substances, disease modifiers in the case of AMS pathology, with each one regarding the administration (intrathecal, intravenous and per os). Material and Methods.…”

Section: Introductionmentioning

confidence: 99%

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2020

BALNEO

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Introduction. The development of Balneary Tourism could be a real COUNTRY Project, because what can be more complete from a socio-economic point of view than increasing the level of health and using the huge balneary potential on which the existence of therapeutic natural resources and Spa Resorts have given them to our country, as well as the financial potential that can result from this activity. From our point of view, such a desideratum could be achieved only through a program -the financing axis dedicated to Spas and Balneology, which aims at a Promotion of Romania in this regard, to allow the use of natural therapeutic factors safely during post-pandemic and create the opportunity to increase our tourism potential in this field through modern know-how and in an updated socio-economic context. The demographic factors of modern society register phenomena such as the aging population and the increasing incidence of diseases related to the generalization of the sedentary urban lifestyle. Spa tourism can be an easy to implement alternative for restoring the health of the individual and to act prophylactically and preventively to maintain an optimal functional balance of biological and psycho-social parameters of the individual. The use of thermal and mineral springs in the country for health and treatment purposes is a tradition with a history of over two thousand years. The legend of Hercules, bathed in the waters of Cerna is proof of the use of thermal waters long before the conquest of the Romans. This tradition exists in almost all civilizations. Today it maintains its utility and is spread on all continents, mainly in the

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Risdiplam. SMN2 splicing modulator, Treatment of spinal muscular atrophy

Cited by 2 publications

References 0 publications

The Importance of Early Treatment of Inherited Neuromuscular Conditions

The Importance of Early Treatment of Inherited Neuromuscular Conditions

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