The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/or severity of the disease.
Krabbe Disease
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/or severity of the disease.
Krabbe Disease Global Patient Registry
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State University of New York at Buffalo, Buffalo, New York, United States, 14203
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
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State University of New York at Buffalo,
Thomas J. Langan, MD, PRINCIPAL_INVESTIGATOR, Clinical Director, Clinical Research, Institute for Myelin and Glial Exploration
2025-09