Personalized CRISPR gene therapy for rare diseases

Reference TimelineLast updated
SUMMARY

KJ Muldoon, the first infant treated with personalized CRISPR gene-editing therapy for a rare metabolic disorder, has shown significant improvement as of June 28, 2026, tolerating increased dietary protein and requiring less medication. As of June 28, 2026, KJ is thriving, walking, and talking, with no adverse effects reported one year after treatment. Separately, Daniel Cressy in the Gulf South region has been functionally cured of Sickle Cell Disease after receiving Casgevy, a CRISPR/Cas9 gene therapy. The FDA unveiled draft guidance on February 23, 2026, for a new approval pathway for custom CRISPR therapies, inspired by KJ's successful treatment for CPS1 deficiency. Researchers plan to submit an Investigational New Drug (IND) application in 2026 to initiate a clinical trial for rare diseases.

Timeline

Want updates on this thread?

Track this story

Timeline of developments

June 2026 1 developments

  1. Infant shows significant improvement after personalized CRISPR gene therapy; Sickle Cell patient cured

    KJ Muldoon, the first infant treated with personalized CRISPR gene-editing therapy for a rare metabolic disorder, has shown significant improvement, tolerating increased dietary protein and requiring less medication. Separately, Daniel Cressy in the Gulf South region has been functionally cured of Sickle Cell Disease after receiving Casgevy, a CRISPR/Cas9 gene therapy.

April 2026 2 developments

  1. Drs. Musunuru and Ahrens-Nicklas Recognized by TIME for Pioneering CRISPR Gene Therapy

    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. KJ's CRISPR Gene Therapy Team Plans 2026 IND Application for Rare Disease Trial

    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 Thrives One Year After Receiving Personalized CRISPR Gene Therapy for CPS1 Deficiency

    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. FDA Unveils Draft Guidance for Custom CRISPR Therapy Approval Pathway

    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. UC Berkeley, Penn Medicine, and CHOP Researchers Administer First On-Demand CRISPR Therapy to Infant

    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 successfully treated with personalized CRISPR gene editing therapy for CPS1 deficiency

    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

February 2025 1 developments

September 2024 1 developments