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Ph: 412-692-9955
Fax: 412-692-9900

Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive
4401 Penn Ave.
Pittsburgh, PA 15224

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

We are currently enrolling children for a study of infantile Krabbe disease funded by the National Institutes of Health. We will use diffusion tensor imaging (DTI), which is a type of magnetic resonance imaging (MRI) scan that can produce three-dimensional images of the brain. DTI is a safe noninvasive test that does not require the use of contrast agents or chemical tracers. The purpose of this research study is to better understand early brain development in children with Krabbe disease. We want to know whether DTI scans that show certain brain structures are useful when making decisions about treatments. In particular, we need to know which children are more likely to benefit from early treatment with unrelated umbilical cord blood transplantation (or future therapies). We also want to know whether DTI images can tell us something about a child's potential learning and motor development and help us predict outcomes after treatment.

To compare early brain development in Krabbe disease with typical brain development, we are enrolling two groups of children:

  • Babies with confirmed Krabbe disease
  • Babies who have very low levels of an enzyme associated with Krabbe disease, but do not actually have the disease

If you would like to participate, your child will have a comprehensive neurodevelopmental evaluation by Dr. Escolar, an expert in evaluating and treating children with Krabbe disease. Your child will need to have DTI scans three times during a 2-year period (before 6 weeks of age, at 1 year, and at 2 years of age). The studies will be performed at the Program for Neurodevelopment in Rare Disorders (NDRD), Children's Hospital of Pittsburgh, a hospital of the University of Pittsburgh Medical Center.

Participation is free of charge, and we will also pay travel and hotel expenses for both parents and the child. The evaluations will include a physical examination, DTI scan, neurological evaluation, and assessments of cognitive, language, and motor development. In addition, you will receive counseling about feeding/eating, sleep, and the best interventions and therapies to improve your child's developmental potential and quality of life.

This study was approved by the biomedical institutional review board at the University of Pittsburgh (PRO11050010) and is funded by the National Institutes of Health (NIH R01NS061965).

If you would like to learn more about this study, please call or e-mail Dr. Escolar, at 412-692-6350.

Download a copy of the Krabbe study pamphlet, "A Research Study About Magnetic Resonance Imaging (MRI) and Krabbe Disease"