Multiple New Studies Contradict Earlier Findings on Utility of Bone Marrow Transplant in Rett Syndrome

Independent reproduction of other scientists' results is a cornerstone of solid research, but scientists are rarely recognized for successfully reproducing published findings, much less for demonstrating that scientific findings cannot be reproduced. However, failure to reproduce a finding may suggest doubt about the robustness of the original work, which carries implications for anyone looking to build on those findings. University of Iowa (UI) neuroscientist Dr. Andrew Pieper unexpectedly found himself in the position of contradicting seemingly promising results published in 2012 in the journal Nature that prompted a clinical trial for human patients. The original study from the laboratory of Dr. Jonathan Kipnis at the University of Virginia School of Medicine, conducted in mice, suggested that a bone marrow transplant from a healthy mouse could prevent the development of Rett syndrome--a severe neurodevelopmental disorder on the autism spectrum--and prolong the lifespan of the treated mice. The study also suggested that the bone marrow transplant arrested the disease because it restored normal microglia cells to the affected animals' brains. The finding was exciting because it suggested that an approach already used in medicine might provide a treatment for a devastating and incurable disease that strikes very young children. On the basis of this work, a clinical trial for bone marrow transplantation in patients with Rett syndrome was initiated at the University of Minnesota. Rett syndrome is caused by mutations in the X-linked MECP2 gene and affects about 1 in every 10,000 girls (it is most often fatal in boys at or near birth). Rett syndrome causes many disabilities, both intellectual and physical. Because many different MECP2 mutations can cause Rett syndrome, a wide range of disability, from mild to severe, can result from the disorder. Dr.
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