Last updated on December 2019

Pyruvate Kinase Deficiency Global Longitudinal Registry


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Pyruvate Kinase Deficiency
  • Age: - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll.
  • Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of PKLR gene mutations (either compound heterozygote or homozygous recessive).
  • The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent

Exclusion Criteria:

  • Participants who are actively enrolled in an Agios-sponsored clinical study involving treatment with a PK activator are not eligible to enroll in the Registry until after they have completed or withdrawn from that clinical study

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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