Recruiting

Observational Study

Sponsor:

State University of New York at Buffalo

Code:

NCT02993796

Conditions

Krabbe Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT02993796

Start date

Sep, 2014

Status verified date

Jul, 2026

Completion date

Sep, 2026

Anticipated

Primary completion date

Sep, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Overall Survival [ Time Frame: up to 5 years ]

Central Contacts and Locations

Central contacts

Thomas J. Langan, MD

716-888-4732tjlangan@buffalo.edu

Amy Barczykowski

716-829-6101alp38@buffalo.edu

Locations

State University of New York at Buffalo

Recruiting

Buffalo, New York, United States, 14203

Contacts

Thomas J. Langan, MD

716-888-4732tjlangan@buffalo.edu

More Information

Sponsor

State University of New York at Buffalo

Last update posted

Jul 17, 2026

Last verified

Jul, 2026

Keywords

  • Krabbe disease
  • globoid cell leukodystrophy
  • galactosylceramide lipidosis
  • sphingolipidosis

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by State University of New York at Buffalo on 2026-07-17.