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| Program Type |
LEND,UCEDD |
| Contact |
Maria Luisa Escolar, MD |
| Email |
maria.escolar@cdl.unc.edu |
| Website |
www.cdl.unc.edu/link-cdl |
| Phone |
919-966-4465 |
| Fax |
919-966-2230 |
Project Description
The purpose of this study is to develop a staging system to define the progression of infantile Krabbe disease. Results of head MRI findings, tests of how the brain responds to hearing and vision will be integrated with information obtained from evaluations of how the infant learns to solve problems, communicate, socialize and behave will be integrated. Other variables such as how the muscles respond to nerve impulses will be integrated with motor development. These variables will be measured at repeated intervals to detect disability progression. This way the significance of each variable will become apparent. Understanding the process will allow us to identify the stages of progression. Currently the only treatment available for infantile Krabbe is the transplantation of progenitors of blood-derived cells that may carry the missing enzyme. Previous studies suggest that the transplant should be done early when there are minimal neurologic signs. Unfortunately, the majority of patients are not diagnosed until they are symptomatic. Because the clinical course can vary greatly among patients, it is extremely difficult to decide whether or not a patient would still benefit from the transplant. This variability also limits our ability to provide a prognosis and to evaluate the success of the transplant or other future therapies. Presently, the decision to offer a transplant is based on subjective clinical opinions. Both clinicians and families are continuously confronted with the dilemma of deciding if it is too late to transplant. For these reasons a staging system that can predict outcome and determine optimal transplant time point would represent an advance in the treatment of infantile Krabbe.
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