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Fax: 412-692-9900

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

You are here: Home > Research > Natural history study of Metachromatic Leukodystrophy (MLD)

Natural History of Metachromatic Leukodystrophy (MLD)

The purpose of this study is to understand neurodevelopmental changes in children with metachromatic leukodystrophy (MLD) as the disease progresses. This research will help understand if treatments being developed for MLD (like enzyme replacement therapy, gene therapy, or umbilical cord blood transplantation) can improve or stabilize disease progression.

If you would like to participate, your child will have a comprehensive neurodevelopmental evaluation with Dr. Escolar, who has treated and followed more than 60 children with MLD. The evaluation will include two magnetic resonance imaging (MRI) scans of the brain (one at the first visit and one after 1 year). In addition, other neurological tests will be performed to understand how the disease is progressing. The studies will be done at the Program for Neurodevelopment in Rare Disorders (NDRD) at Children's Hospital of Pittsburgh, a hospital 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 three times during a period of one year. At each visit your child's development will be evaluated by physical examination, neurological 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 MLD Study brochure.