Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

Protocol Description

This study uses brain imaging as an early diagnostic tool to differentiate newborns with infantile Krabbe disease from those in a control group, who are disease free but have very low enzyme levels. Specifically the study uses diffusion tensor imaging (DTI), a form of magnetic resonance imaging (MRI) technology that creates 3-dimensional images of the brain. Researchers will also examine how certain brain structures develop in children with Krabbe disease compared to those in the control group. The study will also reveal insights about learning and motor development and will help physicians predict outcomes after treatment. Krabbe disease is a rare, childhood neurodegenerative disorder caused by deficiency of galactocerebrosidase, an enzyme responsible for the growth and maintenance of the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Knowledge from this study will help identify the window of opportunity for early intervention and treatment to prevent severe disability and may lead to better treatment strategies.

Eligibility Criteria

Subject to certain exclusion criteria, participants for this study include newborns and infants of both genders with a low level of galactocerebrosidase, a family history of Krabbe disease or who have been diagnosed with Krabbe disease, or who are at risk of developing a motor disability.
Boys and Girls: Newborns and Infants


Participants receive neurodevelopmental evaluations at each visit and will have DTI scans annually while in the study. Procedures done for this study are considered standard of care for patients with Krabbe disease, or low enzyme or at risk for developing a motor disability.
Visits: None beyond standard of care for patients with these conditions
Duration: Up to 17 years

Status: Closed to Enrollment

Source(s) of Support

National Institutes of Health

Primary Investigator

Maria L. Escolar, MD, MS

Contact Information

For more information about the study or enrollment, please contact:
Program Coordinator Mary Brannaman, MPA, BS