Krabbe Disease Global Patient Registry

NCT02993796 | Recruiting DMC

• 2 other identifiers: RDCRN67261R01HD104814-01A1
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Krabbe Disease

Keywords

Krabbe disease; globoid cell leukodystrophy; galactosylceramide lipidosis; sphingolipidosis

Outcome Measures

Primary Outcomes (1)

• Overall Survival

  The longevity of participants will be recorded using their date of death, or conclusion of this study, whichever occurs first.

  up to 5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study seeks enrollment by anyone of any age or gender who has been diagnosed with Krabbe disease, and also: * Anyone at-risk for Krabbe disease * Family members of someone diagnosed with, or at-risk for, Krabbe disease. This may consist of adults unable to consent; individuals who are not yet adults; and pregnant women.

You may qualify if:

• Anyone diagnosed with Krabbe disease
• Anyone at-risk for Krabbe disease
• Family members of someone diagnosed with, or at-risk for, Krabbe disease.

You may not qualify if:

• 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

Sponsors & Collaborators

• State University of New York at Buffalo: lead
• Rare Diseases Clinical Research Network: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• Lysosomal Disease Network: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

State University of New York at Buffalo

Buffalo, New York, 14203, United States

RECRUITING

Related Publications (2)

• Carter RL, Wrabetz L, Jalal K, Orsini JJ, Barczykowski AL, Matern D, Langan TJ. Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically? J Neurosci Res. 2016 Nov;94(11):1084-93. doi: 10.1002/jnr.23793.

  PMID: 27638594 BACKGROUND

• Langan TJ, Barcykowski AL, Dare J, Pannullo EC, Muscarella L, Carter RL. Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease. J Neurosci Res. 2016 Nov;94(11):1189-94. doi: 10.1002/jnr.23787.

  PMID: 27638603 BACKGROUND

Related Links

• Hunter James Kelly Research Institute, University at Buffalo - home page
• Hunter's Hope Foundation, one of the funders of this research study - their home page
• Newborn Screening Translational Research Network - their home page
• Eunice Kennedy Shriver National Institute of Child Health and Human Development
• Rare Diseases Clinical Research Network, the funder of the Lysosomal Disease Network

MeSH Terms

Conditions

Leukodystrophy, Globoid Cell; Sphingolipidoses

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Thomas J. Langan, MD

  Clinical Director, Clinical Research, Institute for Myelin and Glial Exploration

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas J. Langan, MD

CONTACT

716-888-4732; tjlangan@buffalo.edu

Amy Barczykowski

CONTACT

716-829-6101; alp38@buffalo.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 6, 2016
• First Posted: December 15, 2016
• Study Start: September 1, 2014
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: February 10, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will share

Locations

US (1)