Registry for patients with Krabbe disease
The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry
State University of New York at Buffalo · NCT02993796
This study is creating a database for people with Krabbe disease to see how symptoms, genetic factors, and test results can help understand the disease better and improve treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Sex | All |
| Sponsor | State University of New York at Buffalo (other) |
| Locations | 1 site (Buffalo, New York) |
| Trial ID | NCT02993796 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a clinical database for individuals diagnosed with Krabbe disease to identify symptoms that indicate the onset of the disease across its various phenotypes. It will explore the relationship between GALC enzyme activity levels, specific genetic mutations, and the clinical course of the disease. Additionally, the study seeks to determine which neurodiagnostic tests can predict the onset and severity of Krabbe disease. By enhancing the understanding of the disease's phenotypic variations, the registry aims to improve diagnostic accuracy and treatment timing.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Krabbe disease, those at risk for the disease, and family members of affected individuals.
Not a fit: Patients who are not diagnosed with or at risk for Krabbe disease will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could lead to better diagnosis and management of Krabbe disease, ultimately improving patient outcomes.
How similar studies have performed: While this approach is observational and aims to gather data, similar registries for rare diseases have shown success in improving understanding and management of those conditions.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Buffalo, New York
- State University of New York at Buffalo — Buffalo, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Thomas J. Langan, MD — Clinical Director, Clinical Research, Institute for Myelin and Glial Exploration
- Study coordinator: Thomas J. Langan, MD
- Email: tjlangan@buffalo.edu
- Phone: 716-888-4732
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Krabbe Disease, Krabbe disease, globoid cell leukodystrophy, galactosylceramide lipidosis, sphingolipidosis