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Krabbe Disease Global Patient Registry
The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * Anyone diagnosed with Krabbe disease * Anyone at-risk for Krabbe disease * Family members of someone diagnosed with, or at-risk for, Krabbe disease. Exclusion Criteria: * Anyone who is not diagnosed with, or at-risk for, Krabbe disease * Anyone who is not a family member of someone diagnosed with, or at-risk for, Krabbe disease
About the study
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.
Sponsor: State University of New York at Buffalo · Participants: 60 · Started: 2014-09
Contact the study team
- Thomas J. Langan, MD · Phone: 716-888-4732
- Amy Barczykowski · Phone: 716-829-6101
Official record on ClinicalTrials.gov — NCT02993796
Locations in the U.S.
| New York | State University of New York at Buffalo, Buffalo |
Conditions
From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.