A Clifton Heights baby treated for a life-threatening genetic disorder with a pioneering gene editing therapy is out of the hospital and back home, writes Aubrey Whelan for The Philadelphia Inquirer.
Baby KJ left Children’s Hospital of Philadelphia Tuesday after 307 days.
KJ Muldoon suffered from severe carbamoyl phosphate synthetase 1 deficiency, which prevents the liver from processing protein.
KJ risked irreparable brain damage from his condition.
A team at Children’s Hospital of Philadelphia and Penn Medicine treated KJ with a customized CRISPR gene editing therapy.
Doctors analyzed KJ’s genetic profile to find the mutation that prevented the breakdown of protein. They fixed the mutation by giving KJ medication laced with bits of genetic code.
Early signs show the treatment did not cure KJ but made the disease effects milder, with increased protein intake and decreased medical doses.
“It’s been an incredible transformation,” said his father, Kyle Muldoon.
Experts pointed to the treatment as a milestone in using CRISPR technology to produce quick, tailor-made treatments for rare diseases.
The family received applause from hospital staff and a Philadelphia police motorcycle escort back to their Clifton Heights home.
Find out more about KJ and his breakthrough treatment in The Philadelphia Inquirer.
