A Study to Assess the Natural History and Routine Clinical Management of Congenital Disorders of Glycosylation

Overview

About this study

The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.

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:
    • PGM1-CDG, MPI-CDG, or SLC35C1-CDG based on clinical and/or genetic testing (if available) and confirmed by the treating physician;
    • Another CDG but being treated with D-galactose, D-mannose and L-fucose based on clinical and/or genetic testing (if available).
  • Availability of the medical record to collect patients’ retrospective data on natural history and/or hexose treatment (and/or normal standard of care) for disease treatment and management.
  • Signed informed consent by patients, patient’s parent(s)/legally acceptable representative(s). In addition, signed children’s assent form according to local requirements.
  • Data from deceased patients can be included if allowed by the Health Authority and consent will be sought from relatives if mandatory per country law/requirement.

Exclusion Criteria:

  • None.

 

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:

Delana Weis CCRP

(507)266-7196

weis.delana@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20467350

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