Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population

Belter, Lisa; Peterson, Ilse; Jarecki, Jill

doi:10.1007/s40120-023-00552-y

Cited by 2 publications

(1 citation statement)

References 40 publications

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“…Affected individuals may experience muscle weakness, twitching, and exercise intolerance. The progression of the disorder is slow, and life aging is normal (18). Twenty cases with SMA type 4 were found in a Brazilian cohort of 227 SMA patients.…”

Section: Sma Type IVmentioning

confidence: 99%

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga,

Singh,

Ram

et al. 2024

Front. Neurol.

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Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides have been made in the field of SMA therapeutics, revolutionizing the landscape of patient care. One pivotal advancement is the development of gene-targeted therapies, such as nusinersen, onasemnogene abeparvovec and risdiplam which have demonstrated unprecedented efficacy in slowing disease progression. These therapies aim to address the root cause of SMA by targeting the survival motor neuron (SMN) gene, effectively restoring deficient SMN protein levels. The advent of these innovative approaches has transformed the prognosis for many SMA patients, offering a glimmer of hope where there was once limited therapeutic recourse. Furthermore, the emergence of small molecule compounds and RNA-targeting strategies has expanded the therapeutic arsenal against SMA. These novel interventions exhibit diverse mechanisms of action, including SMN protein stabilization and modulation of RNA splicing, showcasing the multifaceted nature of SMA treatment research. Collective efforts of pharmaceutical industries, research centers, and patient advocacy groups have played an important role in expediting the translation of scientific discoveries into visible clinical benefits. This review not only highlights the remarkable progress achieved in SMA therapeutics but also generates the ray of hope for the ongoing efforts required to enhance accessibility, optimize treatment strategies, rehabilitation (care and therapies) and ultimately pave the way for an improved quality of life for individuals affected by SMA.

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Section: Sma Type IVmentioning

confidence: 99%

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga,

Singh,

Ram

et al. 2024

Front. Neurol.

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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

Crawford,

Day,

De Vivo

et al. 2024

Front. Neurol.

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

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Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population

Cited by 2 publications

References 40 publications

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

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

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