Natural History Study Protocol in PMM2-CDG (CDG-Ia)

Overview

About this study

Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia). Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

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:

  • Informed consent/assent by the patient and/or their legally authorized representative
  • Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests
  • Willing and able to adhere to study requirements described in the protocol and consent/assent documents

Exclusion Criteria:

  • Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG)
  • Plan to use investigational drug during study participation
  • Blood loss of >250 mL or donated blood within 56 days, or donated plasma within 7 days, of study screening

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Marc Patterson, M.D.

Open for enrollment

Contact information:

Sarah Bohlen

7737485

Bohlen.Sarah@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

.
CLS-20425279

Mayo Clinic Footer