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Children’s Hospital of Philadelphia Preclinical Study Unveils Promising New Treatment Approach for Fanconi Anemia Patients

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Children’s Hospital of Philadelphia Preclinical Study Unveils Promising New Treatment Approach for Fanconi Anemia Patients
Foundational research sets the stage for medical advances in treatment
January 28, 2025
Peter Kurre, MD
Peter Kurre, MD

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel treatment strategy for patients with Fanconi anemia (FA), a rare genetic disease resulting in loss of blood-forming stem cells in the bone marrow. The researchers successfully used in situ mRNA delivered directly into the body by lipid nanoparticles (LNPs) to target bone marrow cells and transiently restore stem cell function in patients with FA. The findings were published in the journal Molecular Therapy Nucleic Acids

FA can negatively affect a patient’s blood forming stem cells and increase the risk of serious illnesses like cancer. Traditionally, individuals with FA receive blood and platelet transfusions or, when available, bone marrow transplants to minimize or cure the effects of infection, anemia or bleeding on growth and wellbeing. Conventional ex vivo gene therapy has been surprisingly challenging for FA patients due to their fragile blood stem cells and poor tolerance for chemotherapy required for gene therapy preparation. However, in this preclinical study, researchers hypothesized that an alternative in vivo strategy could be effective by delivering mRNA to targeted areas through LNPs, tiny particles that act like messengers, carrying instructions to produce missing proteins.

“Lipid nanoparticles can be considered safer and more effective for certain diseases compared to traditional gene therapy, as they reduce the risk of immune reactions and can be engineered to target specific cells,” said Peter Kurre, MD, Director of the Pediatric Comprehensive Bone Marrow Failure Center at Children’s Hospital of Philadelphia. “We discovered that in the case of Fanconi anemia, these nanoparticles establish the foundation to help us advance toward an a paradigm-shifting in vivo treatment for individuals with this rare disease.”

Omar A. Banda
Omar A. Banda, PhD

In this study, researchers used a preclinical model developed by Omar A. Banda, PhD, now a research scientist in the Department of Pathology and Laboratory Medicine at CHOP, to reach key areas directly in the bone marrow and repair proteins where needed – triggering cells to fix themselves. The treatment helped blood stem cells grow and recover, even under stressful conditions without a negative impact to the immune system.

As a critical proof-of-principle study, the close collaboration with CHOP co-authors, Stefano Rivella, PhD, a research faculty member in the Division of Hematology and Mohamad-Gabriel Alameh, PhD, assistant professor in the Department of Pathology and Laboratory Medicine, sets the stage for a more permanent in vivo gene repair approach using LNP delivery in FA and other bone marrow failure diseases.

This work was funded in part by the Cell & Gene Therapy Collaborative at CHOP with training and grant support for Omer (5-T32-HL-007150-47; Poncz/Chou, principal investigators). 

Banda et al. “Restoring hematopoietic stem and progenitor cell function in Fancc mice by in situ delivery of RNA lipid nanoparticles.” Online March 11, 2025. Molecular Therapy. DOI: 10.1016/j.omtn.2024.102423.

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