Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol
ABSTRACT Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor function achieved. The severity ranges...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Instituto Israelita de Ensino e Pesquisa Albert Einstein
2024-12-01
|
| Series: | Einstein (São Paulo) |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082024000100902&lng=en&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | ABSTRACT Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor function achieved. The severity ranges from progressive infantile paralysis and premature death (type 1) to limited motor neuron loss in adults (type 4). The LATAM RegistrAME protocol is an observational, retrospective, prospective international multicenter clinical registry study involving Latin Americans. We will include 5q-SMA patients across all age groups, from pediatric to adult, to describe their clinical characteristics and disease progression. The protocol will use an international clinical research form based on the Treat Neuromuscular Disease Global Academic Network (TREAT-NMD), which focuses on advancing research on neuromuscular disorders in patients with spinal muscular atrophy. The study will include six countries in Latin America, sampling a total of 415 patients with SMA and 5q-SMA types 1, 2, 3, and 4 of all ages and both sexes who have genetically confirmed 5q-SMA. The mean follow-up period was 24 months. The primary outcomes will be the description of general clinical characteristics, access to medications capable of modifying the course of the disease, functional assessments, motor milestones, and ventilatory support. This study will provide insights into 5q spinal muscular atrophy patients in Latin America to better understand their clinical characteristics, use of medications, and outcomes while supporting further clinical management protocols and clinical trials. ClinicalTrials.gov Identifier: NCT05475691. |
|---|---|
| ISSN: | 2317-6385 |