Development and Validation of Newborn Screening Assays to Measure Biomarkers and Enzyme Levels in Biological Samples from Patients with a Lysosomal Storage Disorder and Their Relatives


About this study

The purpose of this study is to validate and evaluate several diagnostic tests in whole blood dried on filter paper (dried blood spots, DBS), the typical specimen used for newborn screening. Test validation requires the analysis of samples of affected patients and healthy controls, both children and adults.

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:  

  • Have a confirmed diagnosis of an LSD either confirmed by the physician overseeing their care, a diagnosis made by one of the tests in the Biochemical Genetics Laboratory, or who have an LSD based on information in their medical record suggested by inclusion criteria 
  • Be a 1st degree relative (parent, sibling, or child) of an LSD patient based on one of the above mentioned criteria.

Exclusion Criteria:

  • Identified samples obtained without informed consent, inappropriate sample types, or degraded specimens will not be included. 


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

Rochester, Minn.

Mayo Clinic principal investigator

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

Closed for enrollment

More information


Publications are currently not available

Study Results Summary

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Supplemental Study Information

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