A Study of Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation


About this study

The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.


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. If you need assistance understanding the eligibility criteria, please contact the study team.

Inclusion Criteria:

  • Patients of any gender and ethnicity.
  • Patients age 1-80 years old.
  • Patients suspected to have congenital disorders of gycosylation (CDG) based on biochemical tests or a confirmed CDG based on enzymatic or molecular tests will be eligible to enroll in this protocol.

Exclusion Criteria:

  • Patients who cannot travel to the National Institutes of Health (NIH) due to their medical condition.
  • Infants under one year of age.
  • Infants under 10 kg of body weight.



Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Eva Morava-Kozicz, M.D., Ph.D.

Open for enrollment

Contact information:

Katelyn Reed



More information


Publications are currently not available

Study Results Summary

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Supplemental Study Information

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