Personalized CRISPR gene therapy for rare diseases

Reference TimelineLast updated APR 20
SUMMARY

Drs. Kiran Musunuru and Rebecca Ahrens-Nicklas were recognized among TIME's 100 Most Influential People of 2026 on April 20, 2026, for their pioneering work on personalized CRISPR gene therapy for CPS1 deficiency, developed for infant KJ Muldoon. As of February 25, 2026, KJ, the first infant to receive this therapy, marked his one-year treatment anniversary, thriving, walking, and talking with no adverse effects. The FDA unveiled draft guidance for a new approval pathway for custom CRISPR therapies on February 23, 2026, inspired by KJ's successful treatment. The research team plans to submit an Investigational New Drug (IND) application in 2026 to initiate a clinical trial for rare diseases, following the establishment of the $20 million Center for Pediatric CRISPR Cures in July 2025.

Timeline

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Timeline of developments

April 2026 2 developments

  1. Drs. Kiran Musunuru and Rebecca Ahrens-Nicklas were recognized among TIME's 100 Most Influential Peo…

    Drs. Kiran Musunuru and Rebecca Ahrens-Nicklas were recognized among TIME's 100 Most Influential People of 2026 for their pioneering work on personalized CRISPR gene therapy for CPS1 deficiency. This therapy, developed for infant KJ Muldoon, represents a historic milestone in treating rare genetic diseases.

  2. The research team behind KJ's personalized CRISPR gene therapy plans to submit an Investigational New Drug (IND) application in 2026 to initiate a clinical trial for rare diseases.

    The research team behind KJ's personalized CRISPR gene therapy plans to submit an Investigational New Drug (IND) application in 2026 to initiate a clinical trial for rare diseases. This follows the one-year anniversary of KJ's successful treatment for CPS1 deficiency.

February 2026 3 developments

  1. KJ, the first infant to receive personalized CRISPR gene therapy for CPS1 deficiency, has marked the one-year anniversary of his treatment.

    KJ, the first infant to receive personalized CRISPR gene therapy for CPS1 deficiency, has marked the one-year anniversary of his treatment. He is now thriving, walking, and talking, showing significant clinical improvements with no adverse effects. The Children's Hospital of Philadelphia is looking to expand this treatment to other rare diseases.

  2. The FDA has unveiled draft guidance for a new approval pathway for custom CRISPR therapies, inspired by the successful treatment of infant KJ for CPS1 deficiency.

    The FDA has unveiled draft guidance for a new approval pathway for custom CRISPR therapies, inspired by the successful treatment of infant KJ for CPS1 deficiency. This pathway aims to speed the development of bespoke treatments for rare diseases, potentially allowing data from a few patients to support approvals for broader populations.

October 2025 1 developments

August 2025 1 developments

July 2025 1 developments

June 2025 1 developments

May 2025 5 developments

  1. Researchers from the Innovative Genomics Institute (IGI) at UC Berkeley, in collaboration with Penn …

    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.

  2. KJ Muldoon, the first infant to receive a personalized CRISPR gene editing therapy for CPS1 deficiency, has been successfully treated.

    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.

April 2025 1 developments

March 2025 2 developments

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

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

February 2025 1 developments

September 2024 1 developments

  1. Following the failure of conventional treatments and consideration of a liver transplant, a team at …

    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.