Pyruvate Kinase Deficiency Natural History Study

Trial ID or NCT#

NCT02053480

Status

not recruiting iconNOT RECRUITING

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

Eligibility Criteria

Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No
Inclusion Criteria:
  1. * 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:
  1. * The participant or the guardian of the participant is unwilling or unable to give written informed consent and/or assent.

Investigator(s)

Bertil Glader

Contact us to find out if this trial is right for you.

Contact

Heather Hilmoe, CRA
650-725-1662