Researchers at Korea University in South Korea and the Institute for Basic Science (BIS) have identified the cause of West Syndrome. West syndrome is a rare disorder that causes seizures or epilepsy and causes intellectual and developmental disabilities. Researchers studied genetically modified mice and confirmed that a variant in the CYFIP2 gene causes West syndrome.
Spanish researchers have published a clinical guideline for patients' families and doctors for Schaaf-Yang syndrome (SYD). SYD is an extremely rare disease caused by a variant in the MAGEL2 gene. 11 patients were found in Spain, and it is estimated that there are around 200 patients worldwide. Due to its low incidence, there have been no clinical guidelines or treatments.
The U.S. Food and Drug Administration (FDA) has published guidelines for gene therapy for neurodegenerative diseases. The guidelines contain issues to be considered in product development, preclinical and clinical trial design. The final guidelines reflected the requests for amendments from pharmaceutical companies.
It was announced that Novartis' treatment, Iptacopan, outperformed AstraZeneca's existing treatments, Soliris and Ultomiris, in clinical trials. This treatment is indicated for adult patients with paroxysmal nocturnal hemoglobinuria (PNH), which causes anemia.