In a world first, a baby in the U.S. got a personalized CRISPR-based gene therapy to fix a specific mutation in his DNA. The little one, who had a rare genetic condition, received three doses of the therapy in recent months and is now thriving at 9.5 months old, according to his doctors. Dr. Kiran Musunuru, a professor at the University of Pennsylvania’s Perelman School of Medicine, expressed excitement about the potential of this treatment, saying it could revolutionize medicine.
The groundbreaking procedure was detailed in a new paper published in The New England Journal of Medicine and presented at the American Society of Gene & Cell Therapy’s annual meeting. The baby, known as KJ, was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, a rare inherited condition affecting only 1 in 1.3 million people globally. The condition results from mutations in the CPS1 gene, leading to a buildup of ammonia in the body and causing damage, especially in the brain.
KJ’s symptoms appeared shortly after birth, signaling the severe form of CPS1 deficiency. With the help of renal-replacement therapy and a protein-restricted diet, the baby’s condition was managed until he was listed for a liver transplant at 5 months old. However, prior to the transplant, doctors explored the possibility of a personalized gene therapy using CRISPR technology. Dr. Rebecca Ahrens-Nicklas, along with Dr. Musunuru, developed a custom therapy to address the specific gene mutation in KJ, which was administered to the infant in three doses starting at 6-7 months of age. The treatment showed promising results, allowing KJ to progress in his development and reduce his reliance on certain medications.
Not really sure why this matters, but the success of this personalized CRISPR therapy opens up new possibilities for treating genetic disorders that require restoration of gene function. The case of KJ demonstrates the potential of tailored gene therapies to address unique mutations in individual patients. While the long-term effects of the treatment need to be monitored, this milestone represents a significant advancement in the field of gene therapy. Maybe it’s just me, but it seems like we’re on the brink of a new era in medicine where personalized treatments could become more common. Time will tell if this approach becomes a standard practice for treating genetic diseases.
