Clinical and Basic Investigations into 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. 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:

  • Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing.

Exclusion Criteria:

  • Patients without congenital disorders of glycosylation.



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

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

Open for enrollment

Contact information:

Alexandra Miller

(507) 284-5467

Jacksonville, Fla.

Mayo Clinic principal investigator

Karthik Muthusamy, M.B.B.S.

Contact us for the latest status

Contact information:

Alyssa Eastman M.S.

(507) 293-1139

More information


Publications are currently not available

Mayo Clinic Footer