TL;DR
A team of U.S. researchers used a custom in vivo CRISPR gene therapy to treat a newborn with severe CPS1 deficiency, reversing life-threatening symptoms after three doses. The intervention, described in a New England Journal of Medicine paper, marks the first reported bespoke gene edit performed inside a living person.
What happened
A newborn identified as KJ was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, a rare metabolic disorder that prevents the body from clearing ammonia. Because the infant was too young for a liver transplant—the typical treatment option—clinicians and gene-editing experts across multiple U.S. institutions developed a patient-specific in vivo CRISPR therapy over roughly six months. The treatment began on February 25 with a two-hour infusion. KJ received a second dose 22 days later and a third dose shortly before the study publication. While the therapy was being prepared, KJ was kept on a protein-free diet and fell to the 7th percentile for weight. Within two weeks of the first infusion the infant began tolerating protein again and subsequently improved enough to go home with family. The research team includes clinicians and scientists from the Children’s Hospital of Philadelphia, UC Berkeley and Penn Medicine; the case and method are reported in the New England Journal of Medicine.
Why it matters
- This is the first reported use of a bespoke in vivo CRISPR therapy to treat a patient inside the body rather than in cells outside the body.
- If reproducible, the approach could offer a route to treat rare genetic disorders that currently require organ transplants or intensive lifelong management.
- The outcome reflects decades of prior gene-editing and clinical research and cross-institutional collaboration.
- Short-term clinical improvement was observed, but longer-term outcomes and broader applicability remain to be determined.
Key facts
- Patient: a newborn referred to in the report as KJ.
- Diagnosis: severe CPS1 deficiency, estimated in the source as affecting about 1 in 1.3 million babies.
- Therapy type: bespoke in vivo CRISPR gene-editing treatment developed for the patient’s specific CPS1 variant.
- Treatment timeline: first infusion on February 25, second dose 22 days later, third dose given shortly before publication.
- Clinical course before therapy: infant was on a protein-free diet and at the 7th percentile for weight.
- Response: within two weeks of the first infusion KJ began eating protein again and later went home with family.
- Usual standard of care: liver transplant is commonly used for severe CPS1 deficiency but was not an option due to the infant’s age.
- Study publication: the intervention and case are described in the New England Journal of Medicine.
- Key institutions: Children’s Hospital of Philadelphia, University of California–Berkeley, and Penn Medicine are cited as contributors.
What to watch next
- Whether KJ will ultimately require a liver transplant in the future is not confirmed in the source.
- Whether other academic teams replicate this bespoke in vivo editing method and adapt it to additional rare diseases.
- The size, design and outcomes of any forthcoming clinical trials or regulatory reviews related to this approach are not confirmed in the source.
Quick glossary
- CRISPR: A set of molecular tools used to make targeted changes to DNA sequences.
- In vivo therapy: A treatment delivered directly into a living organism rather than applied to cells outside the body.
- CPS1 deficiency: A metabolic genetic disorder that impairs the body’s ability to remove ammonia, which can be toxic at high levels.
- Bespoke therapy: A treatment custom-designed to address an individual patient's specific genetic variant or clinical needs.
- Liver transplant: A surgical procedure to replace a diseased liver with a healthy donor organ; a standard option for some metabolic liver disorders.
Reader FAQ
Was this the first time genes were edited inside a living person?
According to the source, this case is described as the world’s first bespoke in vivo CRISPR gene-editing therapy used to save a human life.
Did the therapy save the patient?
The source reports that the newborn improved after treatment, began tolerating protein within two weeks, and went home with family.
Is it known whether the child will need a liver transplant later?
Not confirmed in the source.
Will this technique be available for other patients soon?
Researchers expressed hope that the method can be replicated for other rare diseases, but wide availability and next steps are not confirmed in the source.
ScienceHealth Scientists Edited Genes Inside a Living Person for the First Time—and Saved His Life With grim prognosis hanging overhead, doctors and scientists at universities and institutions across the U.S….
Sources
- Scientists edited genes in a living person and saved his life
- The baby whose life was saved by the first personalized …
- Infant with rare, incurable disease is first to successfully …
- World's First Patient Treated with Personalized CRISPR …
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