Gene Therapy​

 

 

 

On May 15, 2025, a research team from the Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania published a landmark study in the New England Journal of Medicine(NEJM): the first successful application of a bespoke gene-editing therapy, developed for a single patient, to treat an infant with a rare and fatal genetic disorder—carbamoyl phosphate synthetase 1 (CPS1) deficiency.

 

 

 

This breakthrough not only marks a significant step forward for gene therapy in the field of rare diseases but also brings new hope to countless patients. CPS1 deficiency is an ultra-rare inherited metabolic disorder, with an estimated incidence of 1 in 1.3 million newborns. It impairs the body's ability to convert ammonia into urea for excretion, leading to toxic accumulation of ammonia in the blood, which is life-threatening. The early infant mortality rate is as high as 50%. The research team developed a customized in vivo base editing therapy—kayjayguran abengcemeran (k-abe)—for this infant. Base editing technology, pioneered by Professor David Liu, is derived from CRISPR but does not rely on DNA double-strand breaks, enabling precise correction of pathogenic point mutations in the genome.

 

 

 

In this case, rapid targeted genomic analysis of the patient identified a single-base mutation in the CPS1gene, which was highly suitable for correction using base editing. The entire development process, from creating cell and mouse models to clinical application, took just six months, demonstrating the immense potential of gene therapy for personalized medicine. As of April 2025, the patient had completed three treatments without serious side effects, showing improved protein tolerance, a 50% reduction in nitrogen-scavenging medication dosage, and steady weight gain, indicating a positive therapeutic response.
 

​A New Dawn for Rare Disease Treatment​

 

 

 

Rare diseases have long posed significant challenges in medicine due to their low prevalence, small patient populations, and lack of treatment options. The advent of gene therapy offers new hope by directly targeting the genetic root cause of disease through repairing or replacing defective genes. Beyond the success in CPS1 deficiency, Prime Medicine's lead editing therapy, PM359, also reported initial clinical success on May 19, 2025.

 

 

 

PM359 is being developed for Chronic Granulomatous Disease (CGD), a rare inherited blood disorder with an incidence of approximately 1 in 100,000 to 200,000 births. CGD is caused by mutations in subunits of the NADPH oxidase complex, leading to a high susceptibility to severe infections, inflammation, and autoimmune complications. Common manifestations include inflammatory bowel disease, granulomas in soft tissues, and gastrointestinal tract strictures. Without timely diagnosis and treatment, it can cause organ damage and death. In an adolescent patient treated with PM359, no serious adverse events were reported one month post-treatment. By day 15, 58% of neutrophils had fully restored NADPH oxidase activity, increasing to 66% by day 30—significantly exceeding the pre-specified 20% minimum threshold for clinical benefit and substantially strengthening the patient's immune system. The PM359 therapy highlights the considerable potential of gene editing for treating rare diseases, offering hope for recovery to patients who previously had few or no effective treatment options.

 

​MingCeler Biotech Supports Gene Therapy Advancement​

 

 

 

Amid the rising tide of gene therapy, MingC eler Biotech remains committed to driving innovation and progress in this field.

 

 

 

Leveraging its proprietary TurboMice™ platform, MingCeler Biotech has developed numerous rare disease mouse models, such as GJB2-related deafness models and transthyretin amyloidosis models. The TurboMice™ technology overcomes the long-standing challenges of extended modeling timelines and low success rates for complex models. It enables precise editing at virtually any target genomic locus and allows for the generation of fully homozygous gene-edited mouse models directly from embryonic stem cells in as little as two months. Mingxun Biotech is currently focusing on building a portfolio of rare disease mouse models and offers rapid customization services to meet specific research requirements. We welcome inquiries to discuss your modeling needs.