Personalized CRISPR gene therapy for rare diseases

Researchers behind the personalized CRISPR therapy for Baby KJ are planning to launch a new type of clinical trial specifically for rare diseases to make advanced gene-editing technologies more accessible.

via chop.edu

Further analysis and reports continue to affirm the early success of the personalized CRISPR base-editing in treating CPS1 deficiency, underscoring its significance for genomic medicine.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

The Chan Zuckerberg Initiative and the Innovative Genomics Institute launched a new $20 million Center for Pediatric CRISPR Cures in July 2025, building on the success of KJ Muldoon's case.

via lifescivoice.com

KJ Muldoon, the infant who received the world's first personalized CRISPR-based gene editing therapy, was released from the hospital after more than 300 days.

via cbsnews.com

News outlets widely report on the medical breakthrough, emphasizing the potential for personalized gene editing to treat other ultra-rare genetic diseases.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

Researchers from the Innovative Genomics Institute (IGI) at UC Berkeley, in collaboration with Penn Medicine and the Children's Hospital of Philadelphia (CHOP), developed and administered the first on-demand CRISPR therapy for an infant named KJ. This personalized in vivo CRISPR therapy was developed and delivered to KJ in just six months, a process that has been fast-tracked for approval by the FDA. KJ was born with carbamoyl phosphate synthetase 1 (CPS1) deficiency, an ultra-rare disease affecting approximately 1 in 1.3 million newborns.

via The New England Journal of Medicine·Berkeley News·Penn Medicine·Children's Hospital of Philadelphia

KJ Muldoon, the first infant to receive a personalized CRISPR gene editing therapy for CPS1 deficiency, has been successfully treated. The therapy was administered between February and April 2025, and the child is reportedly doing well, showing no adverse effects and meeting developmental milestones. This marks a significant breakthrough in genomic medicine for rare diseases.

via lifesciencehistory.com·cgtlive.com·inquirer.com·science.org

The research team presents KJ's case at the American Society of Gene & Cell Therapy Annual Meeting, highlighting the rapid development and administration of the personalized therapy.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

The groundbreaking case study detailing KJ's successful treatment and initial outcomes is published in The New England Journal of Medicine.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

KJ receives a third infusion of the personalized CRISPR therapy to further enhance the treatment's efficacy.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

Early results show significant improvement in KJ's condition, allowing him to tolerate increased protein intake and reduce his reliance on ammonia-lowering medications.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

KJ receives a second infusion of the personalized CRISPR therapy as part of the ongoing treatment protocol.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

At approximately six months of age, KJ receives the first infusion of his customized CRISPR base-editing therapy, marking the world's first administration of such a personalized treatment.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu

Following the failure of conventional treatments and consideration of a liver transplant, a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine begins developing a personalized CRISPR base-editing therapy specifically for KJ.

via chop.edu·pharmaphorum.com·innovativegenomics.org·nih.gov·penntoday.upenn.edu