Custom Gene Editing Saves Infant with Rare Metabolic Disorder
- The Rare360 Editorial Team
- 5 days ago
- 2 min read
A Groundbreaking Personalized Therapy
A groundbreaking medical case has shown both the promise and the challenges of using gene editing to treat ultra-rare genetic diseases. In a first-of-its-kind effort, doctors created a custom gene-editing therapy in under seven months to treat a baby with a deadly metabolic disorder.
The child was diagnosed shortly after birth with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a life-threatening condition that leads to dangerously high ammonia levels in the blood. Without treatment, the condition is often fatal in early infancy. The baby’s condition was caused by a single-letter misspelling in the CPS1 gene, which prevents the body from producing a key enzyme.
Custom CRISPR Base Editing in Action
To address the problem, researchers quickly developed a customized gene-editing treatment using a new form of CRISPR technology known as base editing. This method allows scientists to change one specific DNA letter without cutting the DNA strand, making it more precise than earlier versions of CRISPR, which typically delete genes rather than fix them.
Once regulatory approval was obtained, the baby received two infusions of the therapy at the ages of seven and eight months. In the weeks following the first treatment, the child was able to tolerate more dietary protein and required less medication to control ammonia levels, despite also fighting off viral infections during that time. These early signs suggest that the therapy may be working, although a liver biopsy, which would confirm the gene correction, has not yet been done.
Collaboration, Cost, and Challenges
This case marks the first time gene editing has been custom-designed for a single patient. It involved more than 45 researchers, multiple biotech partners offering pro bono support, and regulatory approval for a one-time experiment. Although the total cost and time involved haven’t been calculated, experts estimate that future custom gene-editing treatments could cost as much as a liver transplant—around $800,000—excluding long-term medical care.
Despite the breakthrough, the case shines a light on a growing dilemma: while gene-editing tools are becoming more precise and powerful, they remain financially out of reach for most ultra-rare diseases. Most rare diseases are so uncommon that developing custom treatments is financially unsustainable, especially for companies that must recover research and regulatory costs. Since companies cannot profit from treatments designed for just one or two patients, there’s little incentive to invest in such efforts.
Vision for the Future
Still, this one-time treatment hints at a future where individualized medicine could become more common. In this vision, a sick child could have their DNA sequenced and receive a custom-made therapy in just a few months. Today, such treatments are only practical for liver-related conditions, but researchers hope they can eventually be used for brain and muscle diseases as well.
The apparent success in this case has sparked a broader conversation about how to scale personalized gene therapies so that more patients can benefit. Experts say early steps to make this process faster and more affordable are already underway.
As gene editing advances, the challenge now is figuring out how to make these powerful tools accessible, not just in theory, but in practice, for those who need them most.
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