“I’m a pediatrician in metabolic diseases, and every day in my clinical work I’m confronted with our lack in effective therapies for our patients.” That was the sobering introduction by Sabine Fuchs in her talk at the 2025 Congress of the European Association for the Study of the Liver in Amsterdam this week. The nature of metabolic diseases makes it difficult to develop treatments for them. “There are over 1,500 diseases known by now, and it is just very difficult to develop therapies for each and every individual rare disease.”
Mammoth Biosciences Inc. has nominated its first clinical development candidate – MB-111 – a potential one-time treatment for patients with very high triglycerides, including familial chylomicronemia syndrome (FCS) and severe hypertriglyceridemia. IND-enabling studies are on track to begin this year.
Despite being known for more than 150 years, Duchenne muscular dystrophy (DMD) remains an untreatable disease affecting approximately 1 of every 3,500-5,000 males. Muscles in patients express no or inactive dystrophin, rendering them weak and less mobile.
Precision Biosciences Inc. recently presented a new gene-editing approach, PBGENE-DMD, which could allow life-long benefits to patients with Duchenne muscular dystrophy (DMD).
At this week’s Muscular Dystrophy Association Clinical and Scientific Conference in Dallas, researchers from Suzhou Genassist Therapeutics Co. Ltd. presented preclinical data for GEN-6050X (ss.AAV9.oTAM and ss.AAV9.hE50-sgRNA).
Inherited retinal dystrophies (IRDs), including retinitis pigmentosa and Stargardt disease, are a group of rare degenerative disorders of the retina with clinical and genetic heterogeneity. In a recent publication, researchers from the Institute of Ocular Microsurgery applied clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 and transcription activator-like effector nucleases (TALEN) gene-editing tools to precisely correct induced pluripotent stem cell (hiPSC) lines derived from IRD patients.
Arbor Biotechnologies Inc.’s ABO-101 has been awarded orphan drug and rare pediatric disease designations by the FDA for the treatment of primary hyperoxaluria type 1 (PH1).
A 6.5-month-old boy with the rare inherited urea cycle disorder ornithine transcarbamylase (OTC) deficiency has responded positively in a targeted in vivo gene editing trial, in which a correct copy of a defective gene was inserted at a precise locus in the genome.
The accelerating pace of U.S. FDA approvals for cell and gene therapies is “great for the field and great news for the patients,” but questions remain over commercialization, with “costs remaining stubbornly high.” That was the glass half-full summary of Tim Hunt, president of the industry group, the Alliance for Regenerative Medicine, reprising progress in 2024, and looking forward to the prospects for further growth and the potential impact of the incoming Trump administration in 2025.
