The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Anyone diagnosed with Krabbe disease
• Anyone at-risk for Krabbe disease
• Family members of someone diagnosed with, or at-risk for, Krabbe disease.
Locations
United States
New York
State University of New York at Buffalo
RECRUITING
Buffalo
Contact Information
Primary
Thomas J. Langan, MD
tjlangan@buffalo.edu
716-888-4732
Backup
Amy Barczykowski
alp38@buffalo.edu
716-829-6101
Time Frame
Start Date: 2014-09
Estimated Completion Date: 2026-09
Participants
Target number of participants: 60
Related Therapeutic Areas
Sponsors
Leads: State University of New York at Buffalo
Collaborators: National Center for Advancing Translational Sciences (NCATS), Rare Diseases Clinical Research Network, Lysosomal Disease Network, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)