A pediatric immunologist at The Children's Hospital of Philadelphia collaborated with European gene therapy researchers who achieved marked clinical improvements in two young children with Wiskott-Aldrich syndrome, a very rare but often severe immunodeficiency disorder.
Jordan S. Orange, M.D., Ph.D., an expert in Wiskott-Aldrich syndrome (WAS), performed sophisticated cell imaging and analysis for the study, led by German researcher Christoph Klein, M.D., Ph.D., of Hannover Medical School. Orange was a senior co-author, and Children's Hospital was the only U.S. institution represented in the study, published in the Nov. 11 New England Journal of Medicine.
The proof-of-principle study marks the latest example of a recent upswing in clinical success for gene therapy. In 2009, researchers from The Children's Hospital of Philadelphia and the University of Pennsylvania reported dramatic vision improvements in patients with Leber congenital amaurosis (LCA), a form of inherited blindness. In the same year, Parisian researchers announced success in treating adrenoleukodystrophy, the disease depicted in the movie "Lorenzo's Oil." And scientists at the University of California are reporting preliminary clinical benefits in gene therapy for adenosine deaminase deficiency, an immune deficiency disorder related to "bubble boy disease."
Like WAS, all are very rare inherited disorders and have the potential to be severe and (except for LCA) life-threatening.
Wiskott-Aldrich syndrome is a complex X-linked immunodeficiency disorder characterized by recurrent infections, eczema and thrombocytopeniaa low platelet count. Mutations in the WAS gene disable its ability to produce WAS protein, which plays a crucial role in different types of immune cells. Without WAS protein, immune cells are disabled, incapable of providing immune defenses. Hence, patients are susceptible to premature death from infection, cancers or bleeding.
|Contact: John Ascenzi|
Children's Hospital of Philadelphia