Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification

Article Medicine, Research & Experimental

Adherence and Persistence to Nusinersen for Spinal Muscular Atrophy: A US Claims-Based Analysis

David Fox et al.

Summary: This study aims to characterize real-world adherence and persistence to nusinersen treatment in patients with spinal muscular atrophy (SMA). The findings suggest that adherence and persistence to nusinersen treatment appear to be low, possibly influenced by patients' age and presence of spinal complications. Future research should explore possible reasons for low adherence and persistence.

ADVANCES IN THERAPY (2023)

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Article Clinical Neurology

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

Arlene M. D'Silva et al.

Summary: This study aims to provide insights into the tolerability, safety, and clinical outcomes of onasemnogene abeparvovec for infants with spinal muscular atrophy (SMA) in real-world practice. The results indicate that this treatment can improve motor development and respiratory function in children, but it is also associated with some side effects. Close monitoring of liver function is necessary for children receiving higher doses of the treatment. The study also highlights implementation challenges and proposes solutions for using this therapy in healthcare practice.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2022)

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Letter Clinical Neurology

Novel use of nusinersen as a therapeutic bridge to onasemnogene abeparvovec-xioi in a premature neonate with type 1 spinal muscular atrophy

Leah Ferrante et al.

MUSCLE & NERVE (2022)

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Review Biochemistry & Molecular Biology

Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases

Elena Abati et al.

Summary: Myostatin is a negative regulator of skeletal muscle growth secreted by skeletal myocytes. Inhibition of myostatin has shown potential in enhancing muscle growth and reducing muscle atrophy, making it a promising target for the treatment of motor neuron diseases. This review aims to describe the role of myostatin in these diseases, summarize preclinical and clinical studies of myostatin inhibitors, and discuss the promises and pitfalls of using these inhibitors in human settings, to aid the development of future clinical trials.

CELLULAR AND MOLECULAR LIFE SCIENCES (2022)

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Review Clinical Neurology

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data

Judit Erdos et al.

Summary: This systematic review aimed to evaluate the mid-and long-term effectiveness of approved drugs or combination therapies in different types of spinal muscular atrophy (SMA) patients. The results showed that Nusinersen, onasemnogene abeparvovec, and combination therapies improved motor function in SMA type 1 patients, while SMA type 2 to type 4 patients treated with Nusinersen showed stability or slight improvement. However, there were limited reports on quality of life measures, and the mid-and long-term effectiveness of Risdiplam could not be determined.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2022)

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Article Medicine, General & Internal

Spinal muscular atrophy

Eugenio Mercuri et al.

Summary: Spinal muscular atrophy is a progressive neuromuscular disorder caused by mutations in the SMN1 gene. New therapeutic approaches have redefined standards of care and identified emerging phenotypes of the disease.

NATURE REVIEWS DISEASE PRIMERS (2022)

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Article Medicine, General & Internal

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

Leigh Ramos-Platt et al.

Summary: Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disorder, with three disease-modifying therapies emerging in recent years, profoundly impacting the treatment of SMA, posing challenges in physician-patient decision-making, and sparking broad discussions in the SMA community.

INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2022)

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Article Clinical Neurology