Publications by authors named "M Rothe"
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.
Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.
Background & Aims: In patients with cirrhosis, acute decompensation (AD) correlates with a hyperinflammatory state driven by mitochondrial dysfunction, which is a significant factor in the progression toward acute-on-chronic liver failure (ACLF). Elevated circulating levels of acylcarnitine, indicative of mitochondrial dysfunction, are predictors of mortality in ACLF patients. Our hypothesis posits that acylcarnitines not only act as biomarkers, but also actively exert detrimental effects on circulating immune cells.
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- The study evaluated the effectiveness of palbociclib, a targeted cancer therapy, in patients with advanced cancer exhibiting specific genomic alterations, focusing on two patient groups: those with head and neck cancer (HNC) and those with a mix of histologies (HP).
- Results showed that 40% of the HNC patients achieved disease control, which was statistically significant, while only 13% of the HP cohort did, failing to meet the criteria for significance.
- The treatment had notable side effects, with over 40% of patients experiencing serious adverse events, primarily blood-related issues like neutropenia and thrombocytopenia.
Eicosanoid biosynthesizing enzymes in Prototheria.
Biochim Biophys Acta Mol Cell Biol Lipids
January 2025
Eicosanoids and related compounds are pleiotropic lipid mediators, which play a role in cell differentiation and in the pathogenesis of various diseases. The biosynthesis of these lipids has extensively been studied in highly developed mammals including humans but little is known about the formation of these mediators in more ancient Prototheria. We searched the genomes of two extant prototherian species (platypus, short-beaked echidna) for genes encoding for lipoxygenase- (ALOX) and prostaglandin synthase-isoforms (PTGS) and detected intact single copy genes for ALOX5, ALOX12, ALOX12B, ALOXE3, PTGS1 and PTGS2.
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- Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase, resulting in muscle weakness due to glycogen accumulation in lysosomes.
- Enzyme replacement therapy (ERT) is the current standard treatment but has limitations, like poor muscle penetration and immune reactions against the therapy.
- This study explores a new treatment approach using lentiviral vector-mediated gene therapy in stem cells, showing promise in reversing the disease's effects in a mouse model, along with safety assessments and insights into the treatment's mechanisms.