Search for: [Abstract = "mal results in individual patients generally remained in the abnormal range \(and normal results remained stable\), suggesting that antithrombin 3 activity is a good potential biomarker for future clinical trials. Last we validated patient\-reported outcomes \(PROs\) to measure important aspects of disease burden in PMM2\-CDG. We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life \(QoL\) in a PMM2\-CDG patient cohort of twenty\-five patients. We found a strong correlation between NPCRS 1 \(current functional ability\) and three out of ten PROMIS \(Patient\-Reported Outcomes Measurement Information System\) subscales. Additionally, our findings indicated the worst function in the categories such as physical activity, strength impact, mobility, and satisfaction in social roles in PMM2\-CDG. Here, we found that PROMIS is an informative additional tool to measure CDG disease burden, which could be used as clinical trial outcome measures. In summary, an advanced biochemical analysis including measurements of enzyme activity, polyol levels, proteomics, and glycoproteomics allowed us to demonstrate the positive effect of epalrestat on PMM enzyme upregulation and the glycosylation, at the molecular level, in parallel with clinical improvement. We were successful in both developing new biomarkers and improve our knowledge on natural history in PM"]

Number of results: 1