Registry for patients with Krabbe disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.