Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Ranked #8 Nationally by U.S. News & World Report.
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.
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
National Institutes of Health
Study Description at National Institutes of Health
AJNR Article: DTI Detects Abnormalities in the Corticospinal Tracts of Neonates with Infantile Krabbe Disease
MRI Scan (PDF)
Maria L. Escolar, MD, MS
For more information about the study or enrollment, please contact:
Program Coordinator Mary Brannaman, MPA, BS
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.