Baby saved by gene-editing therapy 'graduates' from hospital, goes home - ABC News

A Medical Miracle: Baby Saved by Gene-Editing Therapy 'Graduates' from Hospital

In a heartwarming story of medical innovation and perseverance, 10-month-old KJ Muldoon, who captured hearts nationwide, has been released from the Children’s Hospital of Philadelphia after receiving a groundbreaking gene-editing treatment. Diagnosed with a rare and often fatal genetic disease shortly after birth, KJ's journey represents a significant leap forward in personalized medicine.

KJ was diagnosed with carbamoyl-phosphate synthetase 1 deficiency, a metabolic condition affecting approximately 1 in 1.3 million people. This devastating illness results in a toxic buildup of ammonia in the body, and tragically, claims the lives of 50% of affected babies in early infancy.

Dr. Ahrens-Nicklas, one of KJ's physicians, explained that KJ had "the most severe variant" of the disease, necessitating an accelerated approach to personalized therapy.

Facing daunting odds, KJ's medical team turned to cutting-edge CRISPR gene-editing technology to design a bespoke treatment tailored specifically to his unique genetic makeup.

Here's a breakdown of the key elements of this remarkable case:

• Diagnosis: KJ was diagnosed shortly after birth with carbamoyl-phosphate synthetase 1 deficiency.
• Treatment: At seven months old, KJ received a first-of-its-kind gene-editing treatment.
• Technology: Doctors utilized CRISPR gene-editing to target and correct the specific genetic defect.
• Outcome: The treatment proved successful, allowing KJ's body to begin thriving.

The results have been nothing short of extraordinary. Following the infusion of the gene-editing therapy, KJ's health dramatically improved. His body began to effectively process ammonia, and he started gaining weight and developing at a rate appropriate for his age.

On Tuesday, after spending 307 days at the Children’s Hospital of Philadelphia, KJ "graduated" – adorned in a cap and gown – and was discharged home to his overjoyed parents and siblings. A "clap out" by the hospital staff celebrated his departure, and local law enforcement provided an escort home, marking this momentous occasion.

KJ Muldoon and his parents prepare for the journey home after he received the first-of-its-kind treatment. Children’s Hospital of Philadelphia

Dr. Kiran Musunuru, director of the Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program, likened CRISPR to a "GPS signal," explaining its ability to precisely target and modify specific gene sequences.

Children’s Hospital of Philadelphia staff clap as the 10-month-old goes home. Children’s Hospital of Philadelphia

While significant work remains to refine and make this bespoke treatment more accessible, this case offers tremendous hope for babies born with ultra-rare genetic conditions. The success of KJ's treatment underscores the transformative potential of gene-editing technology in revolutionizing the treatment of genetic diseases.

KJ's story is a testament to the power of innovation, dedication, and the unwavering belief in the possibility of a better future for all children facing life-threatening illnesses. It's a beacon of hope illuminating the path toward personalized medicine and a future where even the rarest of diseases can be overcome.

Tags: KJ Muldoon, genetic disease, gene editing, CRISPR, baby health, rare disease, hospital release, gene therapy, medical breakthrough, children's hospital

Source: https://abcnews.go.com/Health/baby-saved-gene-editing-therapy-graduates-hospital-home/story?id=122487817