Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely affected infants (SMA type 1), especially when initiated in the presymptomatic phase. One of these treatments is the adeno-associated viral vector 9 (AAV9) based gene therapy onasemnogene abeparvovec (Zolgensma®), which is delivered systemically and has been approved by the European Medicine Agency for SMA patients with up to three copies of the SMN2 gene or with the clinical presentation of SMA type 1. While this broad indication provides flexibility in patient selection, it also raises concerns about the risk-benefit ratio for patients with limited or no evidence supporting treatment. In 2020, we convened a European neuromuscular expert working group to support the rational use of onasemnogene abeparvovec, employing a modified Delphi methodology. After three years, we have assembled a similar yet larger group of European experts who assessed the emerging evidence of onasemnogene abeparvovec's role in treating older and heavier SMA patients, integrating insights from recent clinical trials and real-world evidence. This effort resulted in 12 consensus statements, with strong consensus achieved on 9 and consensus on the remaining 3, reflecting the evolving role of onasemnogene abeparvovec in treating SMA.
- Klíčová slova
- Adeno-associated viral vector, Disease modifying treatment, Effectiveness, Gene therapy, Newborn screening, Onasemnogene abeparvovec, Safety, Spinal muscular atrophy, Survival motor neuron gene, Zolgensma®,
- MeSH
- biologické přípravky terapeutické užití MeSH
- genetická terapie * metody MeSH
- konsensus MeSH
- lidé MeSH
- rekombinantní fúzní proteiny MeSH
- spinální svalová atrofie * terapie genetika MeSH
- spinální svalové atrofie v dětství terapie genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
- Názvy látek
- biologické přípravky MeSH
- rekombinantní fúzní proteiny MeSH
- Zolgensma MeSH Prohlížeč
The author reviews information on the use of a pulsatile magnetic field with defined parameters in some child diseases of the CNS according to his experience assembled during the past five years. PMP was applied in 17 cases with spinal amyotrophy type M. Werdnig-Hoffman and in 16 cases with DMO. In both diseases treatment was previously only symptomatic. PMP frequencies of alpha EEG waves were used during application on the area of the head and a different frequency for whole body treatment focused on muscular dystonia. The author draws attention to the specificity of biotropic parameters of the applied magnetic field.
- MeSH
- kojenec MeSH
- lidé MeSH
- magnetismus terapeutické užití MeSH
- mozková obrna terapie MeSH
- spinální svalové atrofie v dětství terapie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
Changes in type, size and structure of muscle fibres were analyzed in 68 biopsies with clinical and morphological signs of spinal atrophy. Reliability of clinical prebioptic diagnosis was evaluated in comparison with bioptic finding and final diagnosis. Muscle biopsy is often to be performed in spite of apparently unambiguous clinical and electromyographical finding. Contribution of biopsy to the diagnosis of spinal atrophy with characteristical grouping of atrophic fibres is undisputable in most cases. However, unproper sampling in excessively atrophic areas and structural "myogenic" changes can made the bioptic diagnosis difficult or impossible. Size analysis of muscle fibres proved participation of both the basic fibre types in atrophy with increase in number of immature type 2c fibres, and prevalence of type 1 fibres in hypertrophic areas (compensatory hypertrophy or re-innervation respectively) where also hybrid fibres can often be found during transformation of their type. Angular atrophic fibres occurring in hypertrophic fibre groups gave evidence of continuous or secondary denervation in benign forms of spinal atrophy. The author found regressive structural changes in benign form and in malignant Werdnig-Hoffman atrophy either--though less extensive.
- MeSH
- dítě MeSH
- HLA antigeny analýza genetika MeSH
- lidé MeSH
- spinální svalová atrofie imunologie MeSH
- spinální svalové atrofie v dětství genetika imunologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- Názvy látek
- HLA antigeny MeSH
