Krabbe disease, also called globoid-cell leukodystrophy, is caused by a deficiency of the lysosomal enzyme β-galactosylceramidase (GALC), resulting from pathogenic variants in both copies of the GALC gene. The GALC deficiency leads to increased levels of the primary galactosphingolipid substrates, galactosylceramide (GalCer) and psychosine (galactosylsphingosine, PSY), in the nervous system.
Scientists at Ghent University have created a mouse model that incorporates human versions of the receptors that recognize the fragment crystallizable (Fc) region of immunoglobulin G (IgG), one of the most abundant antibodies in the blood and a key mediator of essential immune functions such as cellular activation, pathogen elimination and the regulation of inflammatory responses. These human Fcγ receptors allow the humanized mouse to more accurately reproduce IgG-driven biology, enabling more reliable and safer preclinical assays before evaluating monoclonal antibodies in clinical trials with people.
Shenzhen Hanlin Biomedical Technology Co. Ltd. has identified new urolithin A derivatives. They are reported to be useful for the treatment of neurological disorder, aging, muscle disorder and metabolic diseases.
Work at Alicorn Pharmaceutical Co. Ltd. has led to the synthesis of new sodium channel protein type 10 subunit α (SCN10A; Nav1.8) blockers. They are reported to be useful for the treatment of pain, respiratory and neurological disorders.
Connecta Therapeutics SL has discovered 3-phenoxy-3-phenylpropanamine derivatives described as potentially useful for the treatment of fragile X and Rett syndrome.
Alchemedicine Inc. has disclosed complement factor D (CFD) inhibitors described as potentially useful for the treatment of age-related macular degeneration, arthritis, Alzheimer’s disease, multiple sclerosis, ulcerative colitis, diabetic retinopathy, glaucoma and autoimmune diseases.
A group at the University of Antwerp has patented ferroptosis inhibitors. They are reported to be useful for the treatment of acute renal failure, sepsis, ischemia-reperfusion injury and more.
Genentech Inc. is paying $200 million up front and up to $1.5 billion in milestone payments to license one of Suzhou Sanegene Bio Inc.’s RNAi programs. Metabolic and autoimmune-focused Sanegene did not disclose specifics around the licensed candidate, except that it was derived from its LEAD (Ligand and Enhancer Assisted Delivery) platform.
Researchers from the University of São Paulo (Brazil) first proposed using eccentric training as a promising intervention to address musculoskeletal impairments associated with Marfan syndrome. Eccentric training is a form of resistance exercise that focuses on muscle lengthening under load and can induce robust skeletal muscle adaptations, including the attenuation of muscle wasting, promotion of myofiber hypertrophy and stimulation of satellite cell activation and proliferation, as previously demonstrated.
Advancell Pty Ltd. has entered into a collaboration and exclusive licensing agreement with 48Hour Discovery Inc. to develop a novel peptide-based lead-212 (212Pb) radiotherapeutic with an initial focus on a gastrointestinal cancer with significant medical need.