Publications by authors named "Antonio Moreno Escribano"
Background And Purpose: Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients.
Methods: Patients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence the amount of complete SMN proteins. Therefore, SMN2 is considered the main phenotypic modifier of SMA, although genotype−phenotype correlation is not absolute.
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- The study aimed to evaluate the safety and effectiveness of nusinersen in adult patients with 5q spinal muscular atrophy (SMA), involving a cohort of patients over 15 years old who were followed for at least 6 months.
- Results showed that treated patients had significant improvements in motor function and overall health assessments compared to untreated patients, particularly noting a 2-point improvement in the Revised Upper Limb Module (RULM) score after 6 months.
- Despite most treated patients experiencing some adverse effects, primarily mild, the findings suggest that nusinersen could provide functional benefits, particularly for those on treatment for longer periods, although severely affected patients may face a less favorable risk-benefit outcome.
Objective: To determine the effect of disease-modifying drugs (DMDs) on disease activity rebound in patients discontinuing natalizumab (NTZ).
Methods: Twenty-one patients with relapsing-remitting multiple sclerosis (RRMS) treated with NTZ for ≥1 year and who switched to DMDs (glatiramer acetate [GA] or interferon) were followed up for 12 months in clinical practice. Clinical outcomes after NTZ cessation were assessed every 3 months for 1 year and MRI was performed at 12 months.