For Rare Disease Day 2024, Diana Spencer provides a round-up of the latest breakthroughs in the treatment of rare disease.

Study reveals therapeutic potential of mRNA in rare diseases

Researchers have used messenger RNA (mRNA) to create an effective therapy for a rare liver disease in preclinical studies, demonstrating the technology’s potential therapeutic use in people. The team, led by University College London (UCL), King’s College London and Moderna scientists, found that mRNA could be used to correct a rare genetic liver disease known as argininosuccinic aciduria in a mouse model. Read more.

Phase IIa results for combination pancreatic cancer therapy

BPGbio, an AI-powered biopharma that focuses on oncology, neurology, and rare diseases, has announced new data from a Phase IIa clinical trial of its lead candidate, BPM31510, in patients with advanced pancreatic cancers at the annual ASCO Gastrointestinal Cancers Symposium, being held 18-20 January 2024, in San Francisco. Read more.

Novel leukaemia drug receives FDA Orphan Drug Designation

The US Food and Drug Administration (FDA) has granted Orphan Drug Designation to Pleco Therapeutics’s lead compound PTX-252 for the treatment of acute myeloid leukaemia (AML). PTX-252 is a novel molecular entity developed to increase the sensitivity of cancer cells to chemotherapy. Read more.

JAK inhibitor for rare blood cancer approved in Great Britain

GSK’s Omjjara (momelotinib) has been granted marketing authorisation in Great Britain for the treatment of disease-related splenomegaly or symptoms in adult patients with moderate to severe anaemia who have primary myelofibrosis, post polycythaemia vera myelofibrosis or post essential thrombocythaemia myelofibrosis. Read more

Funds advance gene therapy for cerebrotendinous xanthomatosis

Vivet Therapeutics has received €4.9 million from the French government to advance the development of a gene therapy for the treatment of cerebrotendinous xanthomatosis (CTX), a rare neurodegenerative disease. Read more.