A Study of Clinical Symptoms in PMM2 Patients Affected by mtDNA Variants and Haplotypes


About this study

The purpose of this study is to to investigate if variable phenotypic expression, with the same genotype, could be explained by mtDNA haplotype variations.

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 with a compound heterozygous ARG141HIS + PHE119LEU PMM2-CDG mutation.
  • Patients with the haplogroup H, J and K mtDNA

Exclusion Criteria:

  • Patients with CDG mutations other than ARG141HIS + PHE119LEU PMM2-CDG.

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:

Kaitlin Schwartz



More information


Publications are currently not available