This study will assess the feasibility of using conventional diffusion tensor imaging (DTI) of the brain’s white matter in newborns to make treatment decisions concerning those who are at risk for developing the severe and rapidly progressive form of potentially deadly Krabbe disease.
Krabbe disease is rare, genetically determined, and produced by a deficiency in an enzyme that is essential for development of myelin, the fatty sheath that surrounds nerve cell axons and facilitates neuronal communication. In its most severe form, Krabbe disease begins to produce cognitive and motor symptoms at three to six months of age, including dementia, blindness, deafness, seizures, and spasticity. Infants usually die by age two. Some infants who carry the gene develop a much less severe form that does not develop until adolescence or adulthood. While some benefit has been derived from treating infants with adult bone marrow transplants, recent studies in a small number of infants indicate greater benefit from treatment that uses umbilical cord blood from unrelated adults, which is rich in stem cells. To be effective, however, this treatment must be provided before symptoms emerge.
The effort to make decisions on whether to provide umbilical cord treatment to at-risk newborns depends on the ability to determine if they have the severe rapidly progressive form of Krabbe disease. A potential approach to accurately making this diagnosis may rest with DTI. The investigators hypothesize that DTI of at-risk newborns’ white matter may be able to differentiate newborns with the severe form from those with the milder form, enabling clinicians to decide whether umbilical cord treatment should be provided. The investigators’ preliminary data using DTI in newborns suggests this may be feasible, and this larger study should determine whether this is indeed the case.
Significance: If DTI is found to be a feasible way to identify newborns with the genetically determined deadly form of Krabbe disease, the study would lead to further studies to demonstrate its utility in making critical treatment decisions that would significantly benefit affected infants.