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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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Natural History of Krabbe

The purpose of this study is to understand neurodevelopmental progression in children with Krabbe disease. This includes motor function, learning, speech/language, and behavior. Our research will help us better understand the effectiveness of treatments like enzyme replacement therapy or umbilical cord blood transplantation in improving or stabilizing disease progression.

If you would like to participate, your child will have a comprehensive neurodevelopmental evaluation by Dr. Escolar, an expert in children with Krabbe disease. Dr. Escolar treats and follows more than 60 children with Krabbe disease. The work-up will include seven magnetic resonance imaging (MRI) scans of the brain (at the first visit and at 3, 6, 9, 12, 15, and 18 months of age) and other neurological tests needed to understand how the disease is progressing. The studies will be done at the Program for Neurodevelopment Function in Rare Disorders (NDRD) at Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center.

Your participation is free of charge, and we will also pay the travel and hotel expenses for both parents and the child. Your child will need to come seven times during a period of 18 months. At each visit your child's development will be evaluated by MRI, neurophysiological tests, and assessments of cognitive, language, and motor development. You will receive counseling about feeding/eating and sleep, and we will recommend the best interventions and therapies to improve your child's quality of life and overall development.

Coming soon! Download a copy of the Krabbe Study Pamphlet.

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