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Clinical Studies and Research

A multidisciplinary research approach to uncommon conditions.

Our research uses an interdisciplinary translational approach to answer clinical questions. Our main goal is to improve the quality of life forchildren with rare neurodegenerative conditions.

We are currently enrolling children for an NIH-funded neuroimaging study of infantile Krabbe disease. The purpose of this research study is to learn about early brain development in children with Krabbe disease. Ultimately, we are interested in whether the characterization of certain brain structures and tracts can help clinicians decide if the patients would benefit from hematopoietic stem cell transplantation or other future therapies. It will also tell us something about a child's future learning and motor development and will help us predict outcomes after treatment.

To better understand early brain development in Krabbe Disease we are enrolling two groups of children:

Babies with confirmed Krabbe Disease
Babies who have very low enzyme levels at birth but don't have Krabbe 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. The evaluation will include three magnetic resonance imaging (MRI) scans of the brain (at less than 6 weeks of age and at 1 and 2 years of age). The studies will be done at the Program for Neurodevelopment in Rare Disorders (NDRD), Children’s Hospital of Pittsburgh of UPMC.

Participation is free of charge, and we will pay for travel and hotel expenses for both parents and the child. Your child will need to come three times during a period of two years. At each visit your child's development will be followed and recommendations will be provided. The evaluations will include a physical, a neurological evaluation, and assessments of cognitive, language, and motor development. In addition, you will receive counseling about feeding/eating, sleep, and best interventions to maximize your child’s developmental potential and improve his or her quality of life.

This study was approved by the Biomedical IRB at the University of Pittsburgh (#PRO11050010) and is funded by NIH.

If you would like to learn more about this study, please call Dr. Escolar, at 412-692-9955.

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

Last Update
August 29, 2012

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