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.

Researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine pioneered a first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia caused by mutations in the ALAS2 gene crucial for the synthesis of heme, a key compound in hemoglobin. This study marks the first time researchers studied gene therapy to treat this disease, which the authors underscore could have an impact on a broad spectrum of diseases. The research was published today and featured on the cover of the journal Blood.

Researchers at Children’s Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a single gene mutation. The data on the results of the RP-A501 Phase 1 trial, presented at a late breaking session today at the American Heart Association Scientific Sessions 2024 in Chicago, were also published in the New England Journal of Medicine.

Made possible with a $4 million grant from the Brazilian Ministry of Health, CHOP cell therapy specialists will offer their expertise and resources to oversee this initiative.

Researchers at Children’s Hospital of Philadelphia (CHOP) revealed for the first time that children, adolescents and young adults may experience very rare neurological issues of paraparesis and quadriparesis following chimeric antigen receptor T-cell (CAR-T) therapy, a type of immunotherapy used to treat B-cell Acute Lymphoblastic Leukemia (B-ALL). Additionally, these complications occurred without the type of inflammation typically seen in adults. The findings were published today in the journal Blood.

The ex vivo gene therapy improved sulfatase production and reduced symptoms associated with the disease in preclinical models

Researchers at CHOP announced the results of a new study offering insights into the development of next-generation gene therapies to treat hemophilia A.

Researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine pioneered a new model that offers a potential platform for developing novel therapies to treat Alpha Thalassemia (AT), a severe blood disorder. The findings were published in the journal Blood.

Innovative model highlights bone marrow transplantation without toxic side effects.

New model and vector may hold the keys to transforming the lives of XLSA patients.