A rare genetic disease that claims 50% of babies diagnosed with it by early infancy has shown promising results in a medical first performed at the Children’s Hospital of Philadelphia.
KJ Muldoon, an infant from Clifton Heights, was born with a deadly metabolic disorder called carbamoyl-phosphate synthetase 1 deficiency. The disease affects the urea cycle and can cause severe brain damage due to high levels of ammonia in the blood.
Doctors were able to develop a personalized CRISPR therapy that targeted KJ’s specific genetic mutation. The treatment involved delivering altered DNA directly to liver cells using a lipid nanoparticle, a tiny fat-based carrier that helps transport treatment to the right place in the body.
The approach was designed specifically for this single patient and marks a major step forward in personalized medicine. By reusing key parts of the treatment, doctors aim to create custom instructions for each patient’s specific gene mutation.
The procedure was successful, with doctors cautiously optimistic that it has corrected KJ’s defect. While typically patients with his type of deficiency are treated with a liver transplant, which is high-risk, this breakthrough offers new hope for infants diagnosed with the disease.
Source: https://6abc.com/post/worlds-1st-patient-treated-personalized-crispr-therapy-childrens-hospital-philadelphia/16435125