Story perspectives

Breakthrough CRISPR Treatment for Rare Infant Disorder Advances

9/12/2025

Summary

Story summary

Researchers at Mass General Brigham are developing a CRISPR gene-editing treatment for multisystemic smooth muscle dysfunction syndrome (MSMDS), a rare disorder in infants.
They are in talks with the FDA for a first-in-human clinical trial and plan to submit an investigational new drug application.
The therapy uses a custom CRISPR-Cas9 enzyme to correct a mutation in the ACTA2 gene linked to MSMDS.
Preclinical studies demonstrated significant survival improvements and reduced vascular disease in mouse models.
This marks the first CRISPR-based treatment specifically targeting vascular issues in MSMDS, addressing a critical unmet medical need.

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Story summary

Researchers at Mass General Brigham are developing a CRISPR gene-editing treatment for multisystemic smooth muscle dysfunction syndrome (MSMDS), a rare disorder in infants.
They are in talks with the FDA for a first-in-human clinical trial and plan to submit an investigational new drug application.
The therapy uses a custom CRISPR-Cas9 enzyme to correct a mutation in the ACTA2 gene linked to MSMDS.
Preclinical studies demonstrated significant survival improvements and reduced vascular disease in mouse models.
This marks the first CRISPR-based treatment specifically targeting vascular issues in MSMDS, addressing a critical unmet medical need.