Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review

Neuromuscular Disorders, Journal Year: 2025, Volume and Issue: unknown, P. 105341 - 105341

Published: March 1, 2025

Language: Английский

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Calculation of the Minimal Clinically Important Difference in Upper and Lower Limb Motor Assessment in Spinal Muscular Atrophy

Progress in Rehabilitation Medicine, Journal Year: 2025, Volume and Issue: 10(0), P. n/a - n/a

Published: Jan. 1, 2025

Objectives: Physical function assessments in patients with spinal muscular atrophy (SMA) are important indicators for assessing the effectiveness of treatment and changes over time rehabilitation therapy. However, few reports exist on this indicator. This study calculated minimal clinically difference (MCID) motor upper lower limbs individuals SMA to estimate degree change within a functional score that is considered meaningful.

Language: Английский

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Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes

Acta Neurologica Belgica, Journal Year: 2025, Volume and Issue: unknown

Published: March 26, 2025

Language: Английский

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Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

Journal of Neuromuscular Diseases, Journal Year: 2024, Volume and Issue: 11(3), P. 665 - 677

Published: Feb. 27, 2024

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).

Language: Английский

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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

Frontiers in Neurology, Journal Year: 2024, Volume and Issue: 15

Published: July 22, 2024

Background and purpose At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated both an improved motor function patients Type or 3 spinal muscular atrophy (SMA) a favorable safety profile. This manuscript reports extended efficacy nonambulatory group of study at 36 months. Methods Patients who completed primary (NCT03921528) could enroll open-label extension, during which received 20 mg/kg by intravenous infusion every 4 weeks. were assessed periodically via Hammersmith Functional Motor Scale–Expanded (HFMSE), Revised Upper Limb Module (RULM), World Health Organization (WHO) development milestones, Pediatric Evaluation Disability Inventory Computer Adaptive Test (PEDI-CAT) Daily Activities Mobility domains, Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue questionnaire. Results Of 58 enrolled TOPAZ, 35 (mean age 7.3 years). The mean change HFMSE score from baseline +4.0 (standard deviation [SD]: 7.54), + 2.4 (3.24) for RULM (excluding n = 7 after scoliosis surgery). Caregiver-reported outcomes (PEDI-CAT PROMIS Fatigue) showed improvements over In addition, most (28/32) maintained WHO milestones achieved baseline. frequently reported treatment-emergent adverse events pyrexia (48.6%), nasopharyngitis (45.7%), COVID-19 infection (40.0%), vomiting upper respiratory tract (31.4%). Conclusion benefit observed sustained no new findings.

Language: Английский

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An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy

Journal of Rehabilitation Medicine, Journal Year: 2025, Volume and Issue: 57, P. jrm41254 - jrm41254

Published: Jan. 14, 2025

To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, disease-modifying therapies in adult spinal muscular atrophy. An exploratory qualitative single-site study. Ten adults with atrophy two clinicians participated semi-structured interviews. Semi-structured interviews were conducted virtually or person participants after they completed measures at a routine clinic visit. Two researchers analysed transcripts concurrently using thematic approach to determine themes. themes identified among partici-pants. Patient-reported measure preference varied between groups was under-responsive, although it captured meaningful data. Motor stability most frequently expected therapy, but also reported improved fatigue respiratory status. After considering patient goals, status, preferences, represent valuable adjunct standard clinical research tools. Optimal selection of requires careful consideration multiple factors. Collaborative development modified may yield responsive, meaningful, acceptable tool that can be used across broad spectrum.

Language: Английский

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Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy

Journal of Neuromuscular Diseases, Journal Year: 2025, Volume and Issue: 12(1)

Published: Jan. 1, 2025

Background: Fatigue and fatigability are commonly reported in spinal muscular atrophy (SMA). Physical fatigability, proposed to be the most relevant SMA pathophysiology, encompasses performance-based perceived physical (PPF) assessments. While measures have highlighted as an hallmark, PPF is not well characterized due lack of disease- construct-specific scales. Objective: Our aim was create a patient-reported outcome measure tailored for SMA, named EFFORT, improve assessment. Here, we describe scale development process, assess properties, discuss future research application. Methods: experts organized comprehensive activity item bank, across phenotypic spectrum. Activities were systematically categorized by varying intensities durations. The EFFORT completed international cohort individuals with all types SMA. To compare demographic clinical variables, percent (PPF%) composite scoring established. Results: One hundred eighteen participants EFFORT. Total PPF% scores broadly distributed within functional groups, differences between non-sitters (35.1 ± 21.0) sitters (24.9 15.1) ( p = 0.006), those (34.4 18.1) without respiratory support (26.4 17.8) 0.02). Participants treated disease modifying therapy (DMT) showed similar treatment 0.70). Further, no observed scoliosis surgery 0.71). Subscale analyses revealed mean subscale group. Conclusions: novel standardizes ratings anchoring intensity duration. Item data insights will inform next iteration, which undergo additional investigation. aims upon current better impact on well-being

Language: Английский

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Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop

Journal of Neuromuscular Diseases, Journal Year: 2025, Volume and Issue: unknown

Published: May 13, 2025

Background Disease-modifying therapies for persons with spinal muscular atrophy (SMA) has led to greater need and demand relevant outcomes assessments. Such tools help monitor disease progression, assess treatment response, inform clinical management. Canadian SMA clinicians participated in a Delphi process achieve 2021 national consensus on recommended outcomes, recognizing future reassessment would be essential given the evolving field gaps patient-reported bulbar measures. Objective Derive updated of outcome measures adults SMA. Methods A workshop was held clinicians, patient/family representatives, research leaders, registry advocacy organizations. Clinics experience data were presented discussed, utility current additional reviewed. Long short lists generated, voting derive consensus. Results Practical implementation, value data, relevance key considerations. Consensus achieved ‘think outside box’, spectrum function choose right measure patient at time. Measures acceptance selected, introduced. Eight are recommended; 4 motor, 2 respiratory reported domains, use based individuals level function. The Revised Upper Limb Module deemed have broadest applicability except strongest weakest adults. Additional included as optional exploratory. Conclusions Employing meaningful researchers, living is ensuring quality collection an engaged patient-centred team. Clinicians should select person's functional ability goals. Building community practice support practice, including standardized training, will next step dissemination advocacy.

Language: Английский

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Orthopedic Manifestations of Spinal Muscular Atrophy: Clarified and Unresolved Theoretical and Practical Issues

TERRA ORTHOPAEDICA, Journal Year: 2025, Volume and Issue: 4(123), P. 32 - 38

Published: Feb. 3, 2025

Summary. Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by progressive weakness and muscle resulting from degeneration of neurons in the spinal bulbar parts brain. Objective. This study aims to analyze literature devoted diagnosis treatment orthopedic pathologies patients with various forms SMA. Materials Methods. The based on a retrospective review articles focused PubMed database was searched for published between 2010 2024, focus materials last five years. Results Discussion. search musculoskeletal SMA revealed limited number studies addressing clinical manifestations their dependence type disease. There practically no information changes structural functional state bone tissue structures No unified classification has been found that defines impairment lower extremities depending strength deficit, manifestations, degree loss function affecting independent movement. analysis indicates lack consensus regarding surgical strategies SMA; features interventions correction certain are also not covered, system medical disorders developed. Conclusions. pathology requires detailed fundamental considering disease, its progression, condition structures, patient age, severity pathology, while methods used require further development improvement.

Language: Английский

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Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen

Muscle & Nerve, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 2, 2024

Abstract Introduction/Aims Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect nusinersen on SMA patients has been investigated conflicting results. We aimed to evaluate this adult SMA3. Methods conducted a multicenter retrospective cohort study, including ambulant SMA3, data available 6‐minute walk test (6MWT) Hammersmith Functional Motor Scale—Expanded (HFMSE) at baseline least 6 months treatment nusinersen. fatigability, estimated as 10% or higher decrease walked distance between the first sixth minute 6MWT, over 14‐month follow‐up. Results Forty‐eight (56% females) were included. 6MWT improved after 6, 10, 14 ( p < 0.05). Of 27 who completed entire follow‐up, 37% (6MWT increase ≥30 m), 48.2% remained stable, 14.8% worsened decline m). Fatigability was found 26/38 (68%) confirmed subsequent time points 0.05) without any significant change period. There no correlation SMN2 copy number, sex, age disease onset, baseline, nor total HFMSE score. Discussion detected approximately 2/3 SMA3 walker patients, clinical features, included performance. No observed during period

Language: Английский

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