Psychosine (PSY) Measurements in the Diagnosis and Monitoring of Patients with Krabbe Disease (KD)


About this study

The purpose of this study is to determine if psychosine (PSY) is an indicator of Krabbe disease status and predictor of disease progression.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Abnormal newborn screen (NBS) for Krabbe disease
  • Confirmed diagnosis of Krabbe disease diagnosed by enzyme and/or molecular testing

Exclusion Criteria:

  • Identified samples without informed consent,
  • Inappropriate sample types
  • Degraded specimens 
  • Prisoners


Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Dietrich Matern, M.D., Ph.D.

Closed for enrollment

Contact information:

Lindsay Zetzsche M.S.


More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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