From Molecular Mechanisms to Patient Related Outcomes: Advances in Spinal Muscular Atrophy Research and Care
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 20 December 2026 | Viewed by 252
Editor
Interests: neurology; neurophysiology; motor neuron disease; neuromuscular disorders; meta-analysis; systematic review; spinal muscular atrophy ; stroke; dementia; neuroimmunology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Spinal muscular atrophy (SMA) is a rare inherited neurodegenerative disorder characterized by progressive motor neuron loss leading to muscle weakness and gradual loss of motor function.
Over the past decades, remarkable advances in molecular genetics have elucidated the role of SMN protein deficiency in disease pathogenesis, leading to the approval of three groundbreaking treatments based on different therapeutic approaches, including gene replacement therapy, antisense oligonucleotides, and small molecules. Nevertheless, the full spectrum of SMN protein function in peripheral tissues and non-neuronal organs remains incompletely understood.
The natural history of SMA has been profoundly changed, shifting the clinical focus from survival alone to long-term function, quality of life, and patient-centered care. Thus, there is an increasing need for comprehensive evaluation of treatment effects using robust clinical endpoints, reliable biomarkers, and patient-reported outcome measures (PROMs) to depict subtle changes in patients with longer disease duration.
The aim of this Special Issue is to provide a comprehensive and multidimensional perspective on spinal muscular atrophy (SMA) management and long-term patient quality of life. A comprehensive integration of understanding disease molecular mechanisms with real-world clinical findings is crucial to refining management strategies and improving long-term outcomes and quality of life for SMA patients.
In this Special Issue, original research articles, including basic, translational, and real-world clinical studies, along with reviews addressing disease mechanisms, emerging therapeutic approaches, and outcome measures—including patient-reported outcome measures (PROMs)—are welcome.
Research areas may include (but are not limited to) the following:
- Molecular and cellular mechanisms of SMA pathogenesis;
- SMN protein and disease modifiers;
- Gene and RNA-targeted therapies;
- Therapeutic advances;
- Biomarkers and disease monitoring;
- Real-world evidence;
- Motor function outcomes;
- Patient-reported outcomes and quality of life;
- Rehabilitation and supportive care.
We are looking forward to your contributions to this Special Issue dedicated to advancing multidisciplinary research in SMA.
Dr. Maria Gavriilaki
Guest Editor
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Keywords
- spinal muscular atrophy (SMA)
- neuromuscular disorders
- SMN protein
- disease modifiers
- molecular pathogenesis
- gene therapy
- biomarkers
- translational research
- therapeutic advances
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