A Phase I study of Epalrestat Therapy in a Single Patient with Phosphomannomutase Deficiency (PMM2-CDG)


About this study

The purpose of this study is to evaluate the safety and tolerability of oral Epalrestat therapy in a child with PMM2-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:

  • Single pediatric patient diagnosed with Phosphomannomutase Deficiency (PMM2-CDG).

Exclusion Criteria:

  • Any other pediatric patient.

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.

Closed for enrollment

Contact information:

Katelyn Reed B.S., M.H.S.

(507) 284-0503


More information


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