Krabbe Disease is a rare leukodystrophy that has a purported incidence of 1-2/100,000 live births. The early infantile form of the disease is fulminant, with rapid progression over days to weeks and death typically before 2 years. At this time, the only available treatment is bone marrow transplantation typically using umbilical cord blood. Unfortunately, although the children are far better neurologically than they would have been had they followed the typical course of early infantile Krabbe disease; the overwhelming majority of these children have developed severe progressive motor and language deterioration. The cause of this deterioration is unknown. The issue is particularly pressing now that universal newborn screening for Krabbe Disease has begun in New York State (August 2006) and will begin in Illinois in 2010. The goal of this workshop is to bring together specialists from the transplantation community, neurologists, geneticists, neuroradiologists, neurophysiologists, and neuroscientists to address this phenomenon. There is no other forum in which this multidisciplinary group can gather. The workshop will be divided into 3 sessions. In the first, clinicians will review all the available data on the transplanted infants, to include clinical course, neuroimaging and neurophysiology. There will be an opportunity to interact with families of children with Krabbe disease and examine the affected children, since the meeting will be held at the site of the Hunter's Hope Medical and Family Symposium. By the end of Session 1, the scope of the clinical pathology should be much better defined. In Session 2, scientists who have been transplanting animal models of Krabbe Disease will present their work. If the same phenomenon occurs in the transplanted animals, the neuropathology will be especially helpful in further identifying the problem. .Session 3 will be a multidisciplinary discussion of the possible causes of the deterioration. Interactions among the group should provide new insights into etiology. By the conclusion of the workshop, it is anticipated that theories as to causation will have been advanced and the researchers will begin to embark on proving or disproving them. Once the cause of the progressive neurologic deterioration is understood, we can hopefully identify ways of correcting it. This workshop should also lead to valuable collaborations between clinicians and basic scientists working in the field of leukodystrophies.
The only available treatment for children with Krabbe disease is bone marrow transplantation, typically using umbilical cord blood. The purpose of this conference is to bring together transplanters, child neurologists, geneticists, neuroradiologists, neurophysiologists, neuroscientists, and developmental neurobiologists in an effort to review the results of the transplantation experience in humans and animals and develop possible explanations as to the etiology of the severe progressive neurologic deterioration that is occurring in infants transplanted for Krabbe disease. ? ? ? ?
| Jordan, Lori C; Duffner, Patricia K (2009) Early-onset stroke and cerebrovascular disease in adult survivors of childhood cancer. Neurology 73:1816-7 |
| Duffner, Patricia K; Caviness Jr, Verne S; Erbe, Richard W et al. (2009) The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med 11:450-4 |
