TL;DR
A team of U.S. clinicians and researchers used a custom in vivo CRISPR gene-editing therapy to treat a newborn with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, a rare disorder that prevents the body from removing ammonia. After three infusions beginning Feb. 25, the infant, identified as KJ, showed rapid clinical improvement and has returned home; the work is detailed in a New England Journal of Medicine report.
What happened
Doctors spotted worrying symptoms in a newborn about a week after birth and diagnosed him with severe CPS1 deficiency, a metabolic condition that impairs the body’s ability to clear ammonia. Because the infant was too small to be a candidate for liver transplantation, clinicians and gene-editing specialists across multiple U.S. institutions collaborated to design a bespoke in vivo CRISPR therapy tailored to the baby's specific genetic variant. Treatment began on Feb. 25 with a two-hour infusion; the patient showed functional improvement within two weeks and resumed eating protein. A second dose was given 22 days after the first, and a third dose followed later. The case—reported in the New England Journal of Medicine and involving teams from institutions including the Children’s Hospital of Philadelphia, UC Berkeley and Penn Medicine—resulted in a survival outcome that the authors credit to this first-in-human, customized in vivo editing intervention. The infant is now at home with his family.
Why it matters
- This is the first reported instance of purpose-built gene editing performed directly inside a living human to treat a specific genetic mutation.
- The procedure demonstrates a potential pathway for treating rare, often life-threatening metabolic disorders that previously required organ transplantation.
- The intervention builds on decades of gene-editing research and shows that tailored, patient-specific therapies can be developed and delivered rapidly in urgent cases.
- If reproducible and scalable, the approach could broaden treatment options for other rare genetic diseases with clear molecular targets.
Key facts
- Patient: a newborn identified as KJ who had severe carbamoyl phosphate synthetase 1 (CPS1) deficiency.
- CPS1 deficiency prevalence cited as about one in 1.3 million births.
- Diagnosis occurred roughly one week after birth; the infant was too small for a liver transplant.
- Therapy: a bespoke in vivo CRISPR gene-editing treatment designed to correct the baby’s specific CPS1 variant.
- Treatment timeline: first infusion began Feb. 25 (two-hour infusion), second dose 22 days later, then a third dose subsequently.
- Clinical response: within two weeks after the initial infusion the baby began tolerating protein; prior to treatment he was maintained on a protein-free diet and was in the 7th weight percentile.
- Work involved multiple U.S. institutions, including the Children’s Hospital of Philadelphia, University of California–Berkeley and Penn Medicine.
- The case and methods are described in a report published in the New England Journal of Medicine.
- Authors and investigators described the effort as the first use of a tailored in vivo CRISPR therapy to save a human life.
What to watch next
- Long-term durability of the gene-editing effects in this patient, including whether he will eventually require a liver transplant — not confirmed in the source.
- Whether independent teams can replicate this bespoke in vivo editing approach for other rare genetic variants and scale it beyond single-patient cases — not confirmed in the source.
- Regulatory reviews, formal clinical trial launches, and safety monitoring frameworks for similar in vivo gene-editing interventions — not confirmed in the source.
Quick glossary
- CRISPR: A set of gene-editing tools that can be programmed to target and modify specific DNA sequences within cells.
- In vivo: Procedures or experiments performed inside a living organism rather than in a laboratory dish.
- CPS1 deficiency: A rare inherited metabolic disorder caused by mutations in the CPS1 gene, which can impair the body’s ability to remove ammonia from the bloodstream.
- Bespoke gene therapy: A customized genetic treatment engineered to correct a particular mutation or variant present in an individual patient.
Reader FAQ
Is this the first time genes were edited inside a person?
According to the report, this is the first documented case of a bespoke in vivo CRISPR edit performed to treat a patient’s specific mutation.
Did the treatment save the baby's life?
The team reports that the intervention saved the infant’s life and produced rapid clinical improvement.
Will this cure all genetic diseases?
Not confirmed in the source.
Will the child still need a liver transplant later?
Not confirmed in the source.
Is this treatment available to other patients now?
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 Inside a Living Person for First Time, Saved His Life
- The baby whose life was saved by the first personalized …
- World's First Patient Treated with Personalized CRISPR …
- Infant with rare, incurable disease is first to successfully …
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