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The first bespoke in-vivo base-editing medicine was designed and given to one infant

Researchers created a lipid-nanoparticle-delivered adenine base editor for one infant's pathogenic CPS1 variant. After two infusions, the child tolerated more dietary protein and required about half the baseline nitrogen-scavenger dose during the short observation reported in the paper.

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Stable ID
science-2025-patient-specific-base-editing-cps1
Revision
science-2025-patient-specific-base-editing-cps1.v1
Field
Medicine · Personalized genome editing
Evidence
Tier 2 · Peer reviewed: Yes
Record state
Current · First-in-human proof of concept
Last checked

AI role

No substantive AI role was reported.

Record details

Problem or result
Carbamoyl-phosphate synthetase 1 deficiency is an ultra-rare genetic disorder that can cause dangerous ammonia accumulation, brain injury and death.
Authors
Kiran Musunuru, Rebecca C. Ahrens-Nicklas et al.
Institutions
Children's Hospital of Philadelphia; University of Pennsylvania; Innovative Genomics Institute; Broad Institute and collaborators
Result date
May 15, 2025

Why it matters

The case proves that an n-of-1 programmable genetic medicine can be designed, manufactured, reviewed and delivered on a clinically meaningful timescale.

Limits

This was one infant with no control group and only seven weeks of reported post-treatment observation. The fraction of liver cells edited was not directly measured, so the result does not establish a cure, durable efficacy, scalability or long-term safety.

Sources

  1. Primary: NEJM primary case report
  2. Primary: Open full text
  3. Independent: Nature specialist reporting

Correction and revision history

  1. 2025-05-15 — Peer-reviewed n-of-1 treatment report published online.

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