©2022 Stanford Medicine
Pyruvate Kinase Deficiency Natural History Study
Not Recruiting
Trial ID: NCT02053480
Purpose
The purpose of this study is to describe the range and incidence of symptoms, treatments, and
complications related to pyruvate kinase deficiency (PKD). Eligible patients are those of all
ages with known PKD or with a hemolytic anemia and a family member with PKD. The study will
collect retrospective medical history, routine clinical care data, and quality of life
measures at baseline and annually for patients with PKD.
Official Title
Pyruvate Kinase Deficiency (PKD) Natural History Study
Stanford Investigator(s)
Eligibility
Inclusion Criteria:
- Patients of all ages with biochemically or genetically diagnosed PKD.
- Patients with a hemolytic anemia AND a family member with genetically diagnosed PKD
- The participant or the guardian of the participant is willing and able to give written
informed consent and/or assent.
Exclusion Criteria:
- The participant or the guardian of the participant is unwilling or unable to give
written informed consent and/or assent.
Not Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Heather Hilmoe, CRA
650-725-1662