Spinal muscular atrophy diagnosis in Latin American: the registrame clinical registry

*Correspondence: [e-mail].

Abstract

Background: Spinal muscular atrophy (SMA) is a rare disease characterized by progressive loss of motor neurons located in the anterior horn of the spinal cord and brainstem, leading to progressive muscle atrophy and weakness. The most common form of SMA (5q SMA) is caused by bi-allelic mutations in the SMN1 gene on chromosome 5q13.2, classified into subtypes, according to the age of onset and the maximum motor function achieved. The journey to diagnosis can last for years and have a wide and significant impact on patients' lives.

Objective: To map the time interval between the appearance of the first signs and symptoms and the achievement of the 5q SMA diagnosis using a genetic report in Latin American patients with 5q SMA.

Methods: This study is a clinical multicounty registry for SMA diseases that includes patients with 5q SMA types 1, 2, and 3 of all ages and both sexes, treated in six Latin American countries (Argentina, Brazil, Chile, Colombia, Mexico, and Uruguay). The time interval between the appearance of the first signs and symptoms until obtaining the confirmatory genetic diagnosis of 5q SMA will be analysed.

Results: Currently 213 participants were included (Argentina: 27, Brazil: 136, Colombia: 33, Chile: 17), with an average age of 13.7 (years), being 99 (46.5%) female and 114 (53,5%) male. The study is ongoing, and it is intended to reach around 300 participants in the next 3 months. Preliminary results show subtype 2(45.5%) constitutes the largest number of participants in this study, followed by subtypes 3(38.0%) and 1(16.4%). The mean time to reach the confirmatory molecular report of 5q SMA varies greatly across countries. Of the patients included in the study so far, 134 (63%) use or have had access to disease modifying therapy for SMA and 79 (37%) never had access. Analysing the reality of how long these patients take to confirm the genetic diagnosis of SMA 5q is of great relevance for greater assertiveness in the clinical management of the disease and access to treatments that modify the course of the disease.

Conclusion: 5q SMA is a progressive degenerative disease, and it is of fundamental importance that diagnostic confirmation occurs as early as possible. Knowing the time profile of patients with 5q SMA diagnosis in Latin America is of fundamental importance for us to advance in screening strategies essential to improve patient care. This study is supported by Biogen.

 

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Artikel online veröffentlicht:
12. Mai 2025