Neuronal ceroid lipofuscinosis, commonly known as Batten disease, is an inherited pediatric neurodegenerative lysosomal storage disease caused by mutations in the CLN5 gene. The disease is incurable and there is an urgent medical need for novel therapies. A murine model of Batten disease was developed to study a novel AAV vector that expresses CLN5, AAV9-CLN5. In the study by University College London investigators, the gene therapy, driven by the synapsin promoter, was intracerebroventricularly administered into neonatal Cln5-knockout mice.
Researchers have used cell culture experiments to understand how gene expression was affected in a patient with a rare pain insensitivity syndrome, and have identified a network of hundreds of genes whose expression was changed compared to sex-matched controls. Published online in the journal Brain on May 23, 2023, the research is one step toward translating a rare mutation into medications that could provide benefits for common ailments.
The U.K. Medicines and Healthcare Products Regulatory Agency (MHRA) and the Gene Therapy Advisory Committee (GTAC) have approved a clinical trial application (CTA) submitted by University College London (UCL) to initiate a phase I/II trial of BGT-OTCD, Bloomsbury Genetic Therapies Ltd.’s liver-targeted AAV-LK03 gene therapy, in pediatric patients with ornithine transcarbamylase deficiency (OTCD).
A new study has discovered a promising approach to improve the efficacy of adoptive cell therapies for cancer. The research, published in Molecular Therapy: Nucleic Acids, describes the development of novel Fas-TNFR chimeras acting as decoys for the Fas ligand and preventing it from binding to its natural receptor on the surface of chimeric antigen receptor (CAR) T cells.
Three papers accelerated through publication and appearing in Nature March 30, 2023, have linked an unexplained rise in cases of acute hepatitis in children to adeno-associated virus 2 (AAV2), and pointed to a possible immune-mediated trigger in patients who have a genetic predisposition.
A new experimental drug, QN-302, has shown high antiproliferative activity in pancreatic cancer cells and antitumor activity in experimental pancreatic cancer models.
The canonical Wnt signaling pathway participates in synapse function and stability, and previous research confirmed its impairment in Alzheimer's disease (AD).
International research project Multicentre Epilepsy Lesion Detection (MELD), led by University College London, has developed artificial intelligence software that can identify minute brain anomalies that lead to epilepsy seizures. These anomalies, known as focal cortical dysplasia, can often be treated with surgery but are difficult to visualize on an MRI.
Target ALS Foundation Inc. and the Alzheimer's Drug Discovery Foundation LLC (ADDF) have announced the first four award recipients in a new initiative to identify and develop biomarkers for neurodegenerative diseases, including Alzheimer's disease, amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD).
