Story perspectives

CRISPR Therapy Transforms Life for Child with Rare Disease

10/22/2025

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Summary

Story summary

In Philadelphia, Pennsylvania, the team at Children's Hospital of Philadelphia and Penn Medicine administered a CRISPR-based therapy to KJ with carbamoyl phosphate synthetase 1 (CPS1) deficiency.
The team infused the treatment into KJ's liver in February 2025.
KJ has shown significant improvement in his ability to metabolize proteins, leading to better growth and development.
This historic achievement may pave the way for future gene-editing treatments for other rare genetic diseases.

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Story summary

In Philadelphia, Pennsylvania, the team at Children's Hospital of Philadelphia and Penn Medicine administered a CRISPR-based therapy to KJ with carbamoyl phosphate synthetase 1 (CPS1) deficiency.
The team infused the treatment into KJ's liver in February 2025.
KJ has shown significant improvement in his ability to metabolize proteins, leading to better growth and development.
This historic achievement may pave the way for future gene-editing treatments for other rare genetic diseases.