The treatment with tofersen resulted in a faster response of neurofilament levels in cerebrospinal fluid (CSF) and serum compared to clinical parameters, indicating its potential as a biomarker for treatment response.
The systematic review process led to the identification of drugs that showed promise in improving survival in preclinical studies, thus providing a basis for further clinical evaluation in MND-SMART.
The treatment led to a significant reduction in plasma sphingolipid levels and confirmed the inhibitory effect on sphingolipid synthesis in cell models.
Inhibition of FOXO1 resulted in improved myogenesis and metabolic function in ALS muscle cells. It also corrected muscle-nerve connections and improved neuromuscular synapse function, potentially enhancing motor neuron function and overall muscle health in ALS.
The study identified 51 mitogenome variants associated with ALS, with some variants showing odds ratios greater than 1, indicating a potential link to the disease. The findings suggest that these variants could be used for genetic testing and that mitochondrial replacement therapy may offer a new avenue for treatment.
The initiation of NIMV was associated with a statistically significant slower progression of functional decline in ALS patients, with a mean improvement of 0.13 in the ALS Functional Rating Score – Revised (ALSFRS-R), indicating better preservation of motor function after starting NIMV.
The treatment resulted in a global increase in plasma and cerebrospinal fluid (CSF) miRNA levels at all post-treatment time points compared to baseline, suggesting effective target engagement and potential therapeutic benefits.
Healthy subjects achieved an average BCI accuracy of 86%, with some reaching 100%. Two ALS patients also demonstrated successful communication using the BCI, indicating potential for restoring communication in LIS patients.
The development of the ALS domain ontology (DALSO) represents a significant advancement in the structured knowledge of ALS, facilitating better integration of clinical and genetic data, which may lead to improved diagnostic criteria and therapeutic strategies.