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Abnormal Glycosylation on the Hypothalamic-Pituitary Adrenal and -Gonadal Axes and Bone Health in Patients with Congenital Disorders of Glycosylation

Overview

About this study

The objectives of this study are to characterize the endocrine phenome of 60 patients with PMM2-CDG through a cross-sectional measurement of endocrine markers of adrenal, thyroid, and gonadal function, bone health, growth and glucose metabolism, along with clinical data and bone density measures, and to establish distinctive glycoproteomic patterns associated with endocrinopathies in PMM2-CDG, and identify biomarkers for adrenal, thyroid, glucose, gonadal, and bone disease.

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:

  • Co-enrolled in the study titled “Clinical and Basic Investigations into Congenital Disorders of Glycosylation” at one of the clinical centers (IRB 19-005187).
  • Genetically confirmed PMM2-CDG diagnosis.
  • ≥ 2 years of age.

Exclusion Criteria:

  • Diagnosis of a second genetic disease.
  • Individuals who have situations that would limit compliance with the study requirements.

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

David Deyle, M.D.

Open for enrollment

Contact information:

Bryce Kuschel M.S.

(507) 266-9140

Kuschel.Bryce@mayo.edu

More information

Publications

Publications are currently not available

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CLS-20556748

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