Trial Search Results

Pyruvate Kinase Deficiency Natural History Study

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.

Stanford is currently not accepting patients for this trial.

Lead Sponsor:

Boston Children's Hospital

Collaborator: Agios Pharmaceuticals, Inc.

Stanford Investigator(s):


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.

Ages Eligible for Study

N/A - N/A

Genders Eligible for Study


Not currently accepting new patients for this trial

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Heather Hilmoe, CRA
Not Recruiting