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The purpose of this natural history study is to better understand effects of early infantile metachromatic leukodystrophy (MLD) on motor function, body development and behavior of young children over time. MLD is a rare inherited disorder of lipid metabolism that affects the nervous system. This condition leads to severe and progressive dysmyelination. Researchers hope that information from this study will help doctors learn more about MLD and provide important insights into how MLD affects the body.
Subject to certain exclusion criteria, this study is open to children of both genders, under 12 years of age, who have a confirmed diagnosis of MLD and had symptoms at or before they were 30 months old.
Boys and Girls: Up to 12 years old
Patients enrolled in this study will be given a comprehensive physical examination, neurological tests, and assessments of cognitive, language, and motor development at specific intervals. Following the initial screening and baseline visits, most study visits will occur over one or two days approximately every 12 to 14 weeks. At certain intervals brain imaging will be done and biologic samples (blood, urine, spinal fluid) will be collected.
Duration: Up to 2 years
Shire Human Genetic Therapies, Inc.
Study Description at National Institutes of Health
Maria L. Escolar, MD, MS
For more information about the study or enrollment, please contact:
Brie Yanniello, NDRD Program Coordinator
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
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One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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