The treatment of Spinal Muscular Atrophy (SMA) has significantly been changed as a consequence of clinical translation of several therapeutic approaches addressing Survival Motor Neuron (SMN) protein deficiency as well as neuroprotective strategies supporting muscle strength and function. Therefore, SMA has been an emerging field for the gene therapeutic ideas for the treatment of inherited neuromuscular disorders. But beside this evolution, several aspects in the treatment of SMA have to be further considered and remain unknown.
This Research Topic will focus on the following aspects:
• Genetics of SMA and function of SMN protein
• Clinical phenotypes of SMA
• Currently available treatments
• Emerging therapeutic strategies including viral-vector therapies and neuroprotective agents,
• Biomarkers for disease progression or efficacy management,
• SMA as multi-systemic disease and Standard of Care (inc. supportive)
• Transition to adult care systems
• Newborn Screening
In this Research Topic we will address several of these points with Original Research Articles, Review and Systematic Reviews, Perspectives and Method articles covering topics ranging from basic research to translational studies with a focus on therapeutical aspects.
The treatment of Spinal Muscular Atrophy (SMA) has significantly been changed as a consequence of clinical translation of several therapeutic approaches addressing Survival Motor Neuron (SMN) protein deficiency as well as neuroprotective strategies supporting muscle strength and function. Therefore, SMA has been an emerging field for the gene therapeutic ideas for the treatment of inherited neuromuscular disorders. But beside this evolution, several aspects in the treatment of SMA have to be further considered and remain unknown.
This Research Topic will focus on the following aspects:
• Genetics of SMA and function of SMN protein
• Clinical phenotypes of SMA
• Currently available treatments
• Emerging therapeutic strategies including viral-vector therapies and neuroprotective agents,
• Biomarkers for disease progression or efficacy management,
• SMA as multi-systemic disease and Standard of Care (inc. supportive)
• Transition to adult care systems
• Newborn Screening
In this Research Topic we will address several of these points with Original Research Articles, Review and Systematic Reviews, Perspectives and Method articles covering topics ranging from basic research to translational studies with a focus on therapeutical aspects.
